SNP Links for Protein (Select 767903122) - SNP

Links from Protein

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Select item 14879820041.

rs1487982004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:100873970 (GRCh38)
1:101339526 (GRCh37)
Canonical SPDI:: NC_000001.11:100873969:G:A
Gene:: EXTL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.100873970G>A, NC_000001.10:g.101339526G>A, NM_001439.4:c.965C>T, NM_001439.3:c.965C>T, XM_017000651.3:c.962C>T, XM_017000651.2:c.962C>T, XM_017000651.1:c.962C>T, XM_011540995.3:c.989C>T, XM_011540995.2:c.989C>T, XM_011540995.1:c.989C>T, XM_011540996.3:c.986C>T, XM_011540996.2:c.986C>T, XM_011540996.1:c.986C>T, NM_001033025.3:c.965C>T, NM_001033025.2:c.965C>T, XM_005270621.2:c.965C>T, XM_005270621.1:c.965C>T, NM_001261441.2:c.989C>T, NM_001261441.1:c.989C>T, NM_001261440.2:c.962C>T, NM_001261440.1:c.962C>T, NM_001261442.2:c.*450C>T, NM_001261442.1:c.*450C>T, NR_048570.1:n.1714C>T, XM_047449406.1:c.989C>T, XM_047449405.1:c.989C>T, XM_047449407.1:c.965C>T, XM_047449409.1:c.962C>T, XM_047449408.1:c.965C>T, XM_047449410.1:c.962C>T, NP_001430.1:p.Pro322Leu, XP_016856140.1:p.Pro321Leu, XP_011539297.1:p.Pro330Leu, XP_011539298.1:p.Pro329Leu, NP_001028197.1:p.Pro322Leu, XP_005270678.1:p.Pro322Leu, NP_001248370.1:p.Pro330Leu, NP_001248369.1:p.Pro321Leu, XP_047305362.1:p.Pro330Leu, XP_047305361.1:p.Pro330Leu, XP_047305363.1:p.Pro322Leu, XP_047305365.1:p.Pro321Leu, XP_047305364.1:p.Pro322Leu, XP_047305366.1:p.Pro321Leu

Select item 14854777222.

rs1485477722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:100874331 (GRCh38)
1:101339887 (GRCh37)
Canonical SPDI:: NC_000001.11:100874330:A:G
Gene:: EXTL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100874331A>G, NC_000001.10:g.101339887A>G, NM_001439.4:c.604T>C, NM_001439.3:c.604T>C, XM_017000651.3:c.601T>C, XM_017000651.2:c.601T>C, XM_017000651.1:c.601T>C, XM_011540995.3:c.628T>C, XM_011540995.2:c.628T>C, XM_011540995.1:c.628T>C, XM_011540996.3:c.625T>C, XM_011540996.2:c.625T>C, XM_011540996.1:c.625T>C, NM_001033025.3:c.604T>C, NM_001033025.2:c.604T>C, XM_005270621.2:c.604T>C, XM_005270621.1:c.604T>C, NM_001261441.2:c.628T>C, NM_001261441.1:c.628T>C, NM_001261440.2:c.601T>C, NM_001261440.1:c.601T>C, NM_001261442.2:c.*89T>C, NM_001261442.1:c.*89T>C, NR_048570.1:n.1353T>C, XM_047449406.1:c.628T>C, XM_047449405.1:c.628T>C, XM_047449407.1:c.604T>C, XM_047449409.1:c.601T>C, XM_047449408.1:c.604T>C, XM_047449410.1:c.601T>C, NP_001430.1:p.Ser202Pro, XP_016856140.1:p.Ser201Pro, XP_011539297.1:p.Ser210Pro, XP_011539298.1:p.Ser209Pro, NP_001028197.1:p.Ser202Pro, XP_005270678.1:p.Ser202Pro, NP_001248370.1:p.Ser210Pro, NP_001248369.1:p.Ser201Pro, XP_047305362.1:p.Ser210Pro, XP_047305361.1:p.Ser210Pro, XP_047305363.1:p.Ser202Pro, XP_047305365.1:p.Ser201Pro, XP_047305364.1:p.Ser202Pro, XP_047305366.1:p.Ser201Pro

Select item 14854172903.

rs1485417290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:100877889 (GRCh38)
1:101343445 (GRCh37)
Canonical SPDI:: NC_000001.11:100877888:C:A
Gene:: EXTL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100877889C>A, NC_000001.10:g.101343445C>A, NM_001439.4:c.20G>T, NM_001439.3:c.20G>T, XM_017000651.3:c.20G>T, XM_017000651.2:c.20G>T, XM_017000651.1:c.20G>T, XM_011540995.3:c.44G>T, XM_011540995.2:c.44G>T, XM_011540995.1:c.44G>T, XM_011540996.3:c.44G>T, XM_011540996.2:c.44G>T, XM_011540996.1:c.44G>T, NM_001033025.3:c.20G>T, NM_001033025.2:c.20G>T, XM_005270621.2:c.20G>T, XM_005270621.1:c.20G>T, NM_001261441.2:c.44G>T, NM_001261441.1:c.44G>T, NM_001261440.2:c.20G>T, NM_001261440.1:c.20G>T, NM_001261442.2:c.20G>T, NM_001261442.1:c.20G>T, NR_048570.1:n.769G>T, XM_047449406.1:c.44G>T, XM_047449405.1:c.44G>T, XM_047449407.1:c.20G>T, XM_047449409.1:c.20G>T, XM_047449408.1:c.20G>T, XM_047449410.1:c.20G>T, NP_001430.1:p.Cys7Phe, XP_016856140.1:p.Cys7Phe, XP_011539297.1:p.Cys15Phe, XP_011539298.1:p.Cys15Phe, NP_001028197.1:p.Cys7Phe, XP_005270678.1:p.Cys7Phe, NP_001248370.1:p.Cys15Phe, NP_001248369.1:p.Cys7Phe, NP_001248371.1:p.Cys7Phe, XP_047305362.1:p.Cys15Phe, XP_047305361.1:p.Cys15Phe, XP_047305363.1:p.Cys7Phe, XP_047305365.1:p.Cys7Phe, XP_047305364.1:p.Cys7Phe, XP_047305366.1:p.Cys7Phe

Select item 14838441314.

rs1483844131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:100873945 (GRCh38)
1:101339501 (GRCh37)
Canonical SPDI:: NC_000001.11:100873944:T:C
Gene:: EXTL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.100873945T>C, NC_000001.10:g.101339501T>C, NM_001439.4:c.990A>G, NM_001439.3:c.990A>G, XM_017000651.3:c.987A>G, XM_017000651.2:c.987A>G, XM_017000651.1:c.987A>G, XM_011540995.3:c.1014A>G, XM_011540995.2:c.1014A>G, XM_011540995.1:c.1014A>G, XM_011540996.3:c.1011A>G, XM_011540996.2:c.1011A>G, XM_011540996.1:c.1011A>G, NM_001033025.3:c.990A>G, NM_001033025.2:c.990A>G, XM_005270621.2:c.990A>G, XM_005270621.1:c.990A>G, NM_001261441.2:c.1014A>G, NM_001261441.1:c.1014A>G, NM_001261440.2:c.987A>G, NM_001261440.1:c.987A>G, NM_001261442.2:c.*475A>G, NM_001261442.1:c.*475A>G, NR_048570.1:n.1739A>G, XM_047449406.1:c.1014A>G, XM_047449405.1:c.1014A>G, XM_047449407.1:c.990A>G, XM_047449409.1:c.987A>G, XM_047449408.1:c.990A>G, XM_047449410.1:c.987A>G, NP_001430.1:p.Ile330Met, XP_016856140.1:p.Ile329Met, XP_011539297.1:p.Ile338Met, XP_011539298.1:p.Ile337Met, NP_001028197.1:p.Ile330Met, XP_005270678.1:p.Ile330Met, NP_001248370.1:p.Ile338Met, NP_001248369.1:p.Ile329Met, XP_047305362.1:p.Ile338Met, XP_047305361.1:p.Ile338Met, XP_047305363.1:p.Ile330Met, XP_047305365.1:p.Ile329Met, XP_047305364.1:p.Ile330Met, XP_047305366.1:p.Ile329Met

Select item 14837827825.

rs1483782782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:100877483 (GRCh38)
1:101343039 (GRCh37)
Canonical SPDI:: NC_000001.11:100877482:T:C
Gene:: EXTL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100877483T>C, NC_000001.10:g.101343039T>C, NM_001439.4:c.426A>G, NM_001439.3:c.426A>G, XM_017000651.3:c.426A>G, XM_017000651.2:c.426A>G, XM_017000651.1:c.426A>G, XM_011540995.3:c.450A>G, XM_011540995.2:c.450A>G, XM_011540995.1:c.450A>G, XM_011540996.3:c.450A>G, XM_011540996.2:c.450A>G, XM_011540996.1:c.450A>G, NM_001033025.3:c.426A>G, NM_001033025.2:c.426A>G, XM_005270621.2:c.426A>G, XM_005270621.1:c.426A>G, NM_001261441.2:c.450A>G, NM_001261441.1:c.450A>G, NM_001261440.2:c.426A>G, NM_001261440.1:c.426A>G, NM_001261442.2:c.426A>G, NM_001261442.1:c.426A>G, NR_048570.1:n.1175A>G, XM_047449406.1:c.450A>G, XM_047449405.1:c.450A>G, XM_047449407.1:c.426A>G, XM_047449409.1:c.426A>G, XM_047449408.1:c.426A>G, XM_047449410.1:c.426A>G

Select item 14824043496.

rs1482404349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:100873958 (GRCh38)
1:101339514 (GRCh37)
Canonical SPDI:: NC_000001.11:100873957:T:G
Gene:: EXTL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.100873958T>G, NC_000001.10:g.101339514T>G, NM_001439.4:c.977A>C, NM_001439.3:c.977A>C, XM_017000651.3:c.974A>C, XM_017000651.2:c.974A>C, XM_017000651.1:c.974A>C, XM_011540995.3:c.1001A>C, XM_011540995.2:c.1001A>C, XM_011540995.1:c.1001A>C, XM_011540996.3:c.998A>C, XM_011540996.2:c.998A>C, XM_011540996.1:c.998A>C, NM_001033025.3:c.977A>C, NM_001033025.2:c.977A>C, XM_005270621.2:c.977A>C, XM_005270621.1:c.977A>C, NM_001261441.2:c.1001A>C, NM_001261441.1:c.1001A>C, NM_001261440.2:c.974A>C, NM_001261440.1:c.974A>C, NM_001261442.2:c.*462A>C, NM_001261442.1:c.*462A>C, NR_048570.1:n.1726A>C, XM_047449406.1:c.1001A>C, XM_047449405.1:c.1001A>C, XM_047449407.1:c.977A>C, XM_047449409.1:c.974A>C, XM_047449408.1:c.977A>C, XM_047449410.1:c.974A>C, NP_001430.1:p.Tyr326Ser, XP_016856140.1:p.Tyr325Ser, XP_011539297.1:p.Tyr334Ser, XP_011539298.1:p.Tyr333Ser, NP_001028197.1:p.Tyr326Ser, XP_005270678.1:p.Tyr326Ser, NP_001248370.1:p.Tyr334Ser, NP_001248369.1:p.Tyr325Ser, XP_047305362.1:p.Tyr334Ser, XP_047305361.1:p.Tyr334Ser, XP_047305363.1:p.Tyr326Ser, XP_047305365.1:p.Tyr325Ser, XP_047305364.1:p.Tyr326Ser, XP_047305366.1:p.Tyr325Ser

Select item 14755533147.

rs1475553314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:100877829 (GRCh38)
1:101343385 (GRCh37)
Canonical SPDI:: NC_000001.11:100877828:A:G
Gene:: EXTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100877829A>G, NC_000001.10:g.101343385A>G, NM_001439.4:c.80T>C, NM_001439.3:c.80T>C, XM_017000651.3:c.80T>C, XM_017000651.2:c.80T>C, XM_017000651.1:c.80T>C, XM_011540995.3:c.104T>C, XM_011540995.2:c.104T>C, XM_011540995.1:c.104T>C, XM_011540996.3:c.104T>C, XM_011540996.2:c.104T>C, XM_011540996.1:c.104T>C, NM_001033025.3:c.80T>C, NM_001033025.2:c.80T>C, XM_005270621.2:c.80T>C, XM_005270621.1:c.80T>C, NM_001261441.2:c.104T>C, NM_001261441.1:c.104T>C, NM_001261440.2:c.80T>C, NM_001261440.1:c.80T>C, NM_001261442.2:c.80T>C, NM_001261442.1:c.80T>C, NR_048570.1:n.829T>C, XM_047449406.1:c.104T>C, XM_047449405.1:c.104T>C, XM_047449407.1:c.80T>C, XM_047449409.1:c.80T>C, XM_047449408.1:c.80T>C, XM_047449410.1:c.80T>C, NP_001430.1:p.Leu27Pro, XP_016856140.1:p.Leu27Pro, XP_011539297.1:p.Leu35Pro, XP_011539298.1:p.Leu35Pro, NP_001028197.1:p.Leu27Pro, XP_005270678.1:p.Leu27Pro, NP_001248370.1:p.Leu35Pro, NP_001248369.1:p.Leu27Pro, NP_001248371.1:p.Leu27Pro, XP_047305362.1:p.Leu35Pro, XP_047305361.1:p.Leu35Pro, XP_047305363.1:p.Leu27Pro, XP_047305365.1:p.Leu27Pro, XP_047305364.1:p.Leu27Pro, XP_047305366.1:p.Leu27Pro

Select item 14751680308.

rs1475168030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:100877846 (GRCh38)
1:101343402 (GRCh37)
Canonical SPDI:: NC_000001.11:100877845:T:C
Gene:: EXTL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.100877846T>C, NC_000001.10:g.101343402T>C, NM_001439.4:c.63A>G, NM_001439.3:c.63A>G, XM_017000651.3:c.63A>G, XM_017000651.2:c.63A>G, XM_017000651.1:c.63A>G, XM_011540995.3:c.87A>G, XM_011540995.2:c.87A>G, XM_011540995.1:c.87A>G, XM_011540996.3:c.87A>G, XM_011540996.2:c.87A>G, XM_011540996.1:c.87A>G, NM_001033025.3:c.63A>G, NM_001033025.2:c.63A>G, XM_005270621.2:c.63A>G, XM_005270621.1:c.63A>G, NM_001261441.2:c.87A>G, NM_001261441.1:c.87A>G, NM_001261440.2:c.63A>G, NM_001261440.1:c.63A>G, NM_001261442.2:c.63A>G, NM_001261442.1:c.63A>G, NR_048570.1:n.812A>G, XM_047449406.1:c.87A>G, XM_047449405.1:c.87A>G, XM_047449407.1:c.63A>G, XM_047449409.1:c.63A>G, XM_047449408.1:c.63A>G, XM_047449410.1:c.63A>G

Select item 14749015629.

rs1474901562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:100874238 (GRCh38)
1:101339794 (GRCh37)
Canonical SPDI:: NC_000001.11:100874237:C:G
Gene:: EXTL2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100874238C>G, NC_000001.10:g.101339794C>G, NM_001439.4:c.697G>C, NM_001439.3:c.697G>C, XM_017000651.3:c.694G>C, XM_017000651.2:c.694G>C, XM_017000651.1:c.694G>C, XM_011540995.3:c.721G>C, XM_011540995.2:c.721G>C, XM_011540995.1:c.721G>C, XM_011540996.3:c.718G>C, XM_011540996.2:c.718G>C, XM_011540996.1:c.718G>C, NM_001033025.3:c.697G>C, NM_001033025.2:c.697G>C, XM_005270621.2:c.697G>C, XM_005270621.1:c.697G>C, NM_001261441.2:c.721G>C, NM_001261441.1:c.721G>C, NM_001261440.2:c.694G>C, NM_001261440.1:c.694G>C, NM_001261442.2:c.*182G>C, NM_001261442.1:c.*182G>C, NR_048570.1:n.1446G>C, XM_047449406.1:c.721G>C, XM_047449405.1:c.721G>C, XM_047449407.1:c.697G>C, XM_047449409.1:c.694G>C, XM_047449408.1:c.697G>C, XM_047449410.1:c.694G>C, NP_001430.1:p.Val233Leu, XP_016856140.1:p.Val232Leu, XP_011539297.1:p.Val241Leu, XP_011539298.1:p.Val240Leu, NP_001028197.1:p.Val233Leu, XP_005270678.1:p.Val233Leu, NP_001248370.1:p.Val241Leu, NP_001248369.1:p.Val232Leu, XP_047305362.1:p.Val241Leu, XP_047305361.1:p.Val241Leu, XP_047305363.1:p.Val233Leu, XP_047305365.1:p.Val232Leu, XP_047305364.1:p.Val233Leu, XP_047305366.1:p.Val232Leu

Select item 147063516910.

rs1470635169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:100877588 (GRCh38)
1:101343144 (GRCh37)
Canonical SPDI:: NC_000001.11:100877587:T:C
Gene:: EXTL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.100877588T>C, NC_000001.10:g.101343144T>C, NM_001439.4:c.321A>G, NM_001439.3:c.321A>G, XM_017000651.3:c.321A>G, XM_017000651.2:c.321A>G, XM_017000651.1:c.321A>G, XM_011540995.3:c.345A>G, XM_011540995.2:c.345A>G, XM_011540995.1:c.345A>G, XM_011540996.3:c.345A>G, XM_011540996.2:c.345A>G, XM_011540996.1:c.345A>G, NM_001033025.3:c.321A>G, NM_001033025.2:c.321A>G, XM_005270621.2:c.321A>G, XM_005270621.1:c.321A>G, NM_001261441.2:c.345A>G, NM_001261441.1:c.345A>G, NM_001261440.2:c.321A>G, NM_001261440.1:c.321A>G, NM_001261442.2:c.321A>G, NM_001261442.1:c.321A>G, NR_048570.1:n.1070A>G, XM_047449406.1:c.345A>G, XM_047449405.1:c.345A>G, XM_047449407.1:c.321A>G, XM_047449409.1:c.321A>G, XM_047449408.1:c.321A>G, XM_047449410.1:c.321A>G

Select item 146783931511.

rs1467839315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:100877711 (GRCh38)
1:101343267 (GRCh37)
Canonical SPDI:: NC_000001.11:100877710:A:G
Gene:: EXTL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.100877711A>G, NC_000001.10:g.101343267A>G, NM_001439.4:c.198T>C, NM_001439.3:c.198T>C, XM_017000651.3:c.198T>C, XM_017000651.2:c.198T>C, XM_017000651.1:c.198T>C, XM_011540995.3:c.222T>C, XM_011540995.2:c.222T>C, XM_011540995.1:c.222T>C, XM_011540996.3:c.222T>C, XM_011540996.2:c.222T>C, XM_011540996.1:c.222T>C, NM_001033025.3:c.198T>C, NM_001033025.2:c.198T>C, XM_005270621.2:c.198T>C, XM_005270621.1:c.198T>C, NM_001261441.2:c.222T>C, NM_001261441.1:c.222T>C, NM_001261440.2:c.198T>C, NM_001261440.1:c.198T>C, NM_001261442.2:c.198T>C, NM_001261442.1:c.198T>C, NR_048570.1:n.947T>C, XM_047449406.1:c.222T>C, XM_047449405.1:c.222T>C, XM_047449407.1:c.198T>C, XM_047449409.1:c.198T>C, XM_047449408.1:c.198T>C, XM_047449410.1:c.198T>C

Select item 146707223912.

rs1467072239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:100874239 (GRCh38)
1:101339795 (GRCh37)
Canonical SPDI:: NC_000001.11:100874238:A:C
Gene:: EXTL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.100874239A>C, NC_000001.10:g.101339795A>C, NM_001439.4:c.696T>G, NM_001439.3:c.696T>G, XM_017000651.3:c.693T>G, XM_017000651.2:c.693T>G, XM_017000651.1:c.693T>G, XM_011540995.3:c.720T>G, XM_011540995.2:c.720T>G, XM_011540995.1:c.720T>G, XM_011540996.3:c.717T>G, XM_011540996.2:c.717T>G, XM_011540996.1:c.717T>G, NM_001033025.3:c.696T>G, NM_001033025.2:c.696T>G, XM_005270621.2:c.696T>G, XM_005270621.1:c.696T>G, NM_001261441.2:c.720T>G, NM_001261441.1:c.720T>G, NM_001261440.2:c.693T>G, NM_001261440.1:c.693T>G, NM_001261442.2:c.*181T>G, NM_001261442.1:c.*181T>G, NR_048570.1:n.1445T>G, XM_047449406.1:c.720T>G, XM_047449405.1:c.720T>G, XM_047449407.1:c.696T>G, XM_047449409.1:c.693T>G, XM_047449408.1:c.696T>G, XM_047449410.1:c.693T>G

Select item 146354808213.

rs1463548082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:100877662 (GRCh38)
1:101343218 (GRCh37)
Canonical SPDI:: NC_000001.11:100877661:A:T
Gene:: EXTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100877662A>T, NC_000001.10:g.101343218A>T, NM_001439.4:c.247T>A, NM_001439.3:c.247T>A, XM_017000651.3:c.247T>A, XM_017000651.2:c.247T>A, XM_017000651.1:c.247T>A, XM_011540995.3:c.271T>A, XM_011540995.2:c.271T>A, XM_011540995.1:c.271T>A, XM_011540996.3:c.271T>A, XM_011540996.2:c.271T>A, XM_011540996.1:c.271T>A, NM_001033025.3:c.247T>A, NM_001033025.2:c.247T>A, XM_005270621.2:c.247T>A, XM_005270621.1:c.247T>A, NM_001261441.2:c.271T>A, NM_001261441.1:c.271T>A, NM_001261440.2:c.247T>A, NM_001261440.1:c.247T>A, NM_001261442.2:c.247T>A, NM_001261442.1:c.247T>A, NR_048570.1:n.996T>A, XM_047449406.1:c.271T>A, XM_047449405.1:c.271T>A, XM_047449407.1:c.247T>A, XM_047449409.1:c.247T>A, XM_047449408.1:c.247T>A, XM_047449410.1:c.247T>A, NP_001430.1:p.Leu83Ile, XP_016856140.1:p.Leu83Ile, XP_011539297.1:p.Leu91Ile, XP_011539298.1:p.Leu91Ile, NP_001028197.1:p.Leu83Ile, XP_005270678.1:p.Leu83Ile, NP_001248370.1:p.Leu91Ile, NP_001248369.1:p.Leu83Ile, NP_001248371.1:p.Leu83Ile, XP_047305362.1:p.Leu91Ile, XP_047305361.1:p.Leu91Ile, XP_047305363.1:p.Leu83Ile, XP_047305365.1:p.Leu83Ile, XP_047305364.1:p.Leu83Ile, XP_047305366.1:p.Leu83Ile

Select item 146335342114.

rs1463353421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:100874157 (GRCh38)
1:101339713 (GRCh37)
Canonical SPDI:: NC_000001.11:100874156:A:G
Gene:: EXTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100874157A>G, NC_000001.10:g.101339713A>G, NM_001439.4:c.778T>C, NM_001439.3:c.778T>C, XM_017000651.3:c.775T>C, XM_017000651.2:c.775T>C, XM_017000651.1:c.775T>C, XM_011540995.3:c.802T>C, XM_011540995.2:c.802T>C, XM_011540995.1:c.802T>C, XM_011540996.3:c.799T>C, XM_011540996.2:c.799T>C, XM_011540996.1:c.799T>C, NM_001033025.3:c.778T>C, NM_001033025.2:c.778T>C, XM_005270621.2:c.778T>C, XM_005270621.1:c.778T>C, NM_001261441.2:c.802T>C, NM_001261441.1:c.802T>C, NM_001261440.2:c.775T>C, NM_001261440.1:c.775T>C, NM_001261442.2:c.*263T>C, NM_001261442.1:c.*263T>C, NR_048570.1:n.1527T>C, XM_047449406.1:c.802T>C, XM_047449405.1:c.802T>C, XM_047449407.1:c.778T>C, XM_047449409.1:c.775T>C, XM_047449408.1:c.778T>C, XM_047449410.1:c.775T>C, NP_001430.1:p.Ser260Pro, XP_016856140.1:p.Ser259Pro, XP_011539297.1:p.Ser268Pro, XP_011539298.1:p.Ser267Pro, NP_001028197.1:p.Ser260Pro, XP_005270678.1:p.Ser260Pro, NP_001248370.1:p.Ser268Pro, NP_001248369.1:p.Ser259Pro, XP_047305362.1:p.Ser268Pro, XP_047305361.1:p.Ser268Pro, XP_047305363.1:p.Ser260Pro, XP_047305365.1:p.Ser259Pro, XP_047305364.1:p.Ser260Pro, XP_047305366.1:p.Ser259Pro

Select item 146120722415.

rs1461207224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:100877761 (GRCh38)
1:101343317 (GRCh37)
Canonical SPDI:: NC_000001.11:100877760:T:A
Gene:: EXTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.100877761T>A, NC_000001.10:g.101343317T>A, NM_001439.4:c.148A>T, NM_001439.3:c.148A>T, XM_017000651.3:c.148A>T, XM_017000651.2:c.148A>T, XM_017000651.1:c.148A>T, XM_011540995.3:c.172A>T, XM_011540995.2:c.172A>T, XM_011540995.1:c.172A>T, XM_011540996.3:c.172A>T, XM_011540996.2:c.172A>T, XM_011540996.1:c.172A>T, NM_001033025.3:c.148A>T, NM_001033025.2:c.148A>T, XM_005270621.2:c.148A>T, XM_005270621.1:c.148A>T, NM_001261441.2:c.172A>T, NM_001261441.1:c.172A>T, NM_001261440.2:c.148A>T, NM_001261440.1:c.148A>T, NM_001261442.2:c.148A>T, NM_001261442.1:c.148A>T, NR_048570.1:n.897A>T, XM_047449406.1:c.172A>T, XM_047449405.1:c.172A>T, XM_047449407.1:c.148A>T, XM_047449409.1:c.148A>T, XM_047449408.1:c.148A>T, XM_047449410.1:c.148A>T, NP_001430.1:p.Met50Leu, XP_016856140.1:p.Met50Leu, XP_011539297.1:p.Met58Leu, XP_011539298.1:p.Met58Leu, NP_001028197.1:p.Met50Leu, XP_005270678.1:p.Met50Leu, NP_001248370.1:p.Met58Leu, NP_001248369.1:p.Met50Leu, NP_001248371.1:p.Met50Leu, XP_047305362.1:p.Met58Leu, XP_047305361.1:p.Met58Leu, XP_047305363.1:p.Met50Leu, XP_047305365.1:p.Met50Leu, XP_047305364.1:p.Met50Leu, XP_047305366.1:p.Met50Leu

Select item 145946155816.

rs1459461558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:100876820 (GRCh38)
1:101342376 (GRCh37)
Canonical SPDI:: NC_000001.11:100876819:G:A
Gene:: EXTL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100876820G>A, NC_000001.10:g.101342376G>A, NM_001439.4:c.478C>T, NM_001439.3:c.478C>T, XM_017000651.3:c.475C>T, XM_017000651.2:c.475C>T, XM_017000651.1:c.475C>T, XM_011540995.3:c.502C>T, XM_011540995.2:c.502C>T, XM_011540995.1:c.502C>T, XM_011540996.3:c.499C>T, XM_011540996.2:c.499C>T, XM_011540996.1:c.499C>T, NM_001033025.3:c.478C>T, NM_001033025.2:c.478C>T, XM_005270621.2:c.478C>T, XM_005270621.1:c.478C>T, NM_001261441.2:c.502C>T, NM_001261441.1:c.502C>T, NM_001261440.2:c.475C>T, NM_001261440.1:c.475C>T, NR_048570.1:n.1227C>T, XM_047449406.1:c.502C>T, XM_047449405.1:c.502C>T, XM_047449407.1:c.478C>T, XM_047449409.1:c.475C>T, XM_047449408.1:c.478C>T, XM_047449410.1:c.475C>T, NP_001430.1:p.Leu160Phe, XP_016856140.1:p.Leu159Phe, XP_011539297.1:p.Leu168Phe, XP_011539298.1:p.Leu167Phe, NP_001028197.1:p.Leu160Phe, XP_005270678.1:p.Leu160Phe, NP_001248370.1:p.Leu168Phe, NP_001248369.1:p.Leu159Phe, XP_047305362.1:p.Leu168Phe, XP_047305361.1:p.Leu168Phe, XP_047305363.1:p.Leu160Phe, XP_047305365.1:p.Leu159Phe, XP_047305364.1:p.Leu160Phe, XP_047305366.1:p.Leu159Phe

Select item 145857413017.

rs1458574130 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:100876842 (GRCh38)
1:101342398 (GRCh37)
Canonical SPDI:: NC_000001.11:100876841:G:
Gene:: EXTL2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100876842del, NC_000001.10:g.101342398del, NM_001439.4:c.456del, NM_001439.3:c.456del, XM_017000651.3:c.453del, XM_017000651.2:c.453del, XM_017000651.1:c.453del, XM_011540995.3:c.480del, XM_011540995.2:c.480del, XM_011540995.1:c.480del, XM_011540996.3:c.477del, XM_011540996.2:c.477del, XM_011540996.1:c.477del, NM_001033025.3:c.456del, NM_001033025.2:c.456del, XM_005270621.2:c.456del, XM_005270621.1:c.456del, NM_001261441.2:c.480del, NM_001261441.1:c.480del, NM_001261440.2:c.453del, NM_001261440.1:c.453del, NR_048570.1:n.1205del, XM_047449406.1:c.480del, XM_047449405.1:c.480del, XM_047449407.1:c.456del, XM_047449409.1:c.453del, XM_047449408.1:c.456del, XM_047449410.1:c.453del, NP_001430.1:p.Asp152fs, XP_016856140.1:p.Asp151fs, XP_011539297.1:p.Asp160fs, XP_011539298.1:p.Asp159fs, NP_001028197.1:p.Asp152fs, XP_005270678.1:p.Asp152fs, NP_001248370.1:p.Asp160fs, NP_001248369.1:p.Asp151fs, XP_047305362.1:p.Asp160fs, XP_047305361.1:p.Asp160fs, XP_047305363.1:p.Asp152fs, XP_047305365.1:p.Asp151fs, XP_047305364.1:p.Asp152fs, XP_047305366.1:p.Asp151fs

Select item 145843782018.

rs1458437820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:100874100 (GRCh38)
1:101339656 (GRCh37)
Canonical SPDI:: NC_000001.11:100874099:C:A
Gene:: EXTL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.100874100C>A, NC_000001.10:g.101339656C>A, NM_001439.4:c.835G>T, NM_001439.3:c.835G>T, XM_017000651.3:c.832G>T, XM_017000651.2:c.832G>T, XM_017000651.1:c.832G>T, XM_011540995.3:c.859G>T, XM_011540995.2:c.859G>T, XM_011540995.1:c.859G>T, XM_011540996.3:c.856G>T, XM_011540996.2:c.856G>T, XM_011540996.1:c.856G>T, NM_001033025.3:c.835G>T, NM_001033025.2:c.835G>T, XM_005270621.2:c.835G>T, XM_005270621.1:c.835G>T, NM_001261441.2:c.859G>T, NM_001261441.1:c.859G>T, NM_001261440.2:c.832G>T, NM_001261440.1:c.832G>T, NM_001261442.2:c.*320G>T, NM_001261442.1:c.*320G>T, NR_048570.1:n.1584G>T, XM_047449406.1:c.859G>T, XM_047449405.1:c.859G>T, XM_047449407.1:c.835G>T, XM_047449409.1:c.832G>T, XM_047449408.1:c.835G>T, XM_047449410.1:c.832G>T, NP_001430.1:p.Gly279Cys, XP_016856140.1:p.Gly278Cys, XP_011539297.1:p.Gly287Cys, XP_011539298.1:p.Gly286Cys, NP_001028197.1:p.Gly279Cys, XP_005270678.1:p.Gly279Cys, NP_001248370.1:p.Gly287Cys, NP_001248369.1:p.Gly278Cys, XP_047305362.1:p.Gly287Cys, XP_047305361.1:p.Gly287Cys, XP_047305363.1:p.Gly279Cys, XP_047305365.1:p.Gly278Cys, XP_047305364.1:p.Gly279Cys, XP_047305366.1:p.Gly278Cys

Select item 145214074819.

rs1452140748 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCC [Show Flanks]
Chromosome:: 1:100877852 (GRCh38)
1:101343409 (GRCh37)
Canonical SPDI:: NC_000001.11:100877852::CTCC
Gene:: EXTL2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.100877852_100877853insCTCC, NC_000001.10:g.101343408_101343409insCTCC, NM_001439.4:c.56_57insGGAG, NM_001439.3:c.56_57insGGAG, XM_017000651.3:c.56_57insGGAG, XM_017000651.2:c.56_57insGGAG, XM_017000651.1:c.56_57insGGAG, XM_011540995.3:c.80_81insGGAG, XM_011540995.2:c.80_81insGGAG, XM_011540995.1:c.80_81insGGAG, XM_011540996.3:c.80_81insGGAG, XM_011540996.2:c.80_81insGGAG, XM_011540996.1:c.80_81insGGAG, NM_001033025.3:c.56_57insGGAG, NM_001033025.2:c.56_57insGGAG, XM_005270621.2:c.56_57insGGAG, XM_005270621.1:c.56_57insGGAG, NM_001261441.2:c.80_81insGGAG, NM_001261441.1:c.80_81insGGAG, NM_001261440.2:c.56_57insGGAG, NM_001261440.1:c.56_57insGGAG, NM_001261442.2:c.56_57insGGAG, NM_001261442.1:c.56_57insGGAG, NR_048570.1:n.805_806insGGAG, XM_047449406.1:c.80_81insGGAG, XM_047449405.1:c.80_81insGGAG, XM_047449407.1:c.56_57insGGAG, XM_047449409.1:c.56_57insGGAG, XM_047449408.1:c.56_57insGGAG, XM_047449410.1:c.56_57insGGAG, NP_001430.1:p.Arg20fs, XP_016856140.1:p.Arg20fs, XP_011539297.1:p.Arg28fs, XP_011539298.1:p.Arg28fs, NP_001028197.1:p.Arg20fs, XP_005270678.1:p.Arg20fs, NP_001248370.1:p.Arg28fs, NP_001248369.1:p.Arg20fs, NP_001248371.1:p.Arg20fs, XP_047305362.1:p.Arg28fs, XP_047305361.1:p.Arg28fs, XP_047305363.1:p.Arg20fs, XP_047305365.1:p.Arg20fs, XP_047305364.1:p.Arg20fs, XP_047305366.1:p.Arg20fs

Select item 144725937920.

rs1447259379 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 1:100877776 (GRCh38)
1:101343332 (GRCh37)
Canonical SPDI:: NC_000001.11:100877773:TTCTTT:TT
Gene:: EXTL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.100877776_100877779del, NC_000001.10:g.101343332_101343335del, NM_001439.4:c.132_135del, NM_001439.3:c.132_135del, XM_017000651.3:c.132_135del, XM_017000651.2:c.132_135del, XM_017000651.1:c.132_135del, XM_011540995.3:c.156_159del, XM_011540995.2:c.156_159del, XM_011540995.1:c.156_159del, XM_011540996.3:c.156_159del, XM_011540996.2:c.156_159del, XM_011540996.1:c.156_159del, NM_001033025.3:c.132_135del, NM_001033025.2:c.132_135del, XM_005270621.2:c.132_135del, XM_005270621.1:c.132_135del, NM_001261441.2:c.156_159del, NM_001261441.1:c.156_159del, NM_001261440.2:c.132_135del, NM_001261440.1:c.132_135del, NM_001261442.2:c.132_135del, NM_001261442.1:c.132_135del, NR_048570.1:n.881_884del, XM_047449406.1:c.156_159del, XM_047449405.1:c.156_159del, XM_047449407.1:c.132_135del, XM_047449409.1:c.132_135del, XM_047449408.1:c.132_135del, XM_047449410.1:c.132_135del, NP_001430.1:p.Glu45fs, XP_016856140.1:p.Glu45fs, XP_011539297.1:p.Glu53fs, XP_011539298.1:p.Glu53fs, NP_001028197.1:p.Glu45fs, XP_005270678.1:p.Glu45fs, NP_001248370.1:p.Glu53fs, NP_001248369.1:p.Glu45fs, NP_001248371.1:p.Glu45fs, XP_047305362.1:p.Glu53fs, XP_047305361.1:p.Glu53fs, XP_047305363.1:p.Glu45fs, XP_047305365.1:p.Glu45fs, XP_047305364.1:p.Glu45fs, XP_047305366.1:p.Glu45fs

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dbSNP

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