SNP Links for Protein (Select 4758486) - SNP

Links from Protein

Items: 1 to 20 of 91

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Select item 14866524681.

rs1486652468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:59652274 (GRCh38)
15:59944473 (GRCh37)
Canonical SPDI:: NC_000015.10:59652273:C:T
Gene:: GTF2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.59652274C>T, NC_000015.9:g.59944473C>T, NM_004492.3:c.4G>A, NM_004492.2:c.4G>A, NM_001320930.2:c.4G>A, NM_001320930.1:c.4G>A, NM_001320929.2:c.4G>A, NM_001320929.1:c.4G>A, NP_004483.1:p.Ala2Thr, NP_001307859.1:p.Ala2Thr, NP_001307858.1:p.Ala2Thr

Select item 14859418282.

rs1485941828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:59652240 (GRCh38)
15:59944439 (GRCh37)
Canonical SPDI:: NC_000015.10:59652239:T:C
Gene:: GTF2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.59652240T>C, NC_000015.9:g.59944439T>C, NM_004492.3:c.38A>G, NM_004492.2:c.38A>G, NM_001320930.2:c.38A>G, NM_001320930.1:c.38A>G, NM_001320929.2:c.38A>G, NM_001320929.1:c.38A>G, NP_004483.1:p.Asn13Ser, NP_001307859.1:p.Asn13Ser, NP_001307858.1:p.Asn13Ser

Select item 14838716593.

rs1483871659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:59642175 (GRCh38)
15:59934374 (GRCh37)
Canonical SPDI:: NC_000015.10:59642174:T:G
Gene:: GTF2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000015.10:g.59642175T>G, NC_000015.9:g.59934374T>G, NM_004492.3:c.265A>C, NM_004492.2:c.265A>C, NM_001320930.2:c.265A>C, NM_001320930.1:c.265A>C, NM_001320929.2:c.265A>C, NM_001320929.1:c.265A>C, NP_004483.1:p.Lys89Gln, NP_001307859.1:p.Lys89Gln, NP_001307858.1:p.Lys89Gln

Select item 14758423764.

rs1475842376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:59642212 (GRCh38)
15:59934411 (GRCh37)
Canonical SPDI:: NC_000015.10:59642211:C:G
Gene:: GTF2A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59642212C>G, NC_000015.9:g.59934411C>G, NM_004492.3:c.228G>C, NM_004492.2:c.228G>C, NM_001320930.2:c.228G>C, NM_001320930.1:c.228G>C, NM_001320929.2:c.228G>C, NM_001320929.1:c.228G>C

Select item 14751237165.

rs1475123716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:59642202 (GRCh38)
15:59934401 (GRCh37)
Canonical SPDI:: NC_000015.10:59642201:C:A
Gene:: GTF2A2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000015.10:g.59642202C>A, NC_000015.9:g.59934401C>A, NM_004492.3:c.238G>T, NM_004492.2:c.238G>T, NM_001320930.2:c.238G>T, NM_001320930.1:c.238G>T, NM_001320929.2:c.238G>T, NM_001320929.1:c.238G>T, NP_004483.1:p.Glu80Ter, NP_001307859.1:p.Glu80Ter, NP_001307858.1:p.Glu80Ter

Select item 14672474966.

rs1467247496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:59650757 (GRCh38)
15:59942956 (GRCh37)
Canonical SPDI:: NC_000015.10:59650756:G:A
Gene:: GTF2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.59650757G>A, NC_000015.9:g.59942956G>A, NM_004492.3:c.89C>T, NM_004492.2:c.89C>T, NM_001320930.2:c.89C>T, NM_001320930.1:c.89C>T, NM_001320929.2:c.89C>T, NM_001320929.1:c.89C>T, NP_004483.1:p.Pro30Leu, NP_001307859.1:p.Pro30Leu, NP_001307858.1:p.Pro30Leu

Select item 14525147067.

rs1452514706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:59650670 (GRCh38)
15:59942869 (GRCh37)
Canonical SPDI:: NC_000015.10:59650669:C:G
Gene:: GTF2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.59650670C>G, NC_000015.9:g.59942869C>G, NM_004492.3:c.176G>C, NM_004492.2:c.176G>C, NM_001320930.2:c.176G>C, NM_001320930.1:c.176G>C, NM_001320929.2:c.176G>C, NM_001320929.1:c.176G>C, NP_004483.1:p.Arg59Thr, NP_001307859.1:p.Arg59Thr, NP_001307858.1:p.Arg59Thr

Select item 14519071738.

rs1451907173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:59652261 (GRCh38)
15:59944460 (GRCh37)
Canonical SPDI:: NC_000015.10:59652260:T:G
Gene:: GTF2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59652261T>G, NC_000015.9:g.59944460T>G, NM_004492.3:c.17A>C, NM_004492.2:c.17A>C, NM_001320930.2:c.17A>C, NM_001320930.1:c.17A>C, NM_001320929.2:c.17A>C, NM_001320929.1:c.17A>C, NP_004483.1:p.Tyr6Ser, NP_001307859.1:p.Tyr6Ser, NP_001307858.1:p.Tyr6Ser

Select item 14483484999.

rs1448348499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:59650709 (GRCh38)
15:59942908 (GRCh37)
Canonical SPDI:: NC_000015.10:59650708:G:A
Gene:: GTF2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.59650709G>A, NC_000015.9:g.59942908G>A, NM_004492.3:c.137C>T, NM_004492.2:c.137C>T, NM_001320930.2:c.137C>T, NM_001320930.1:c.137C>T, NM_001320929.2:c.137C>T, NM_001320929.1:c.137C>T, NP_004483.1:p.Ala46Val, NP_001307859.1:p.Ala46Val, NP_001307858.1:p.Ala46Val

Select item 144713214510.

rs1447132145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:59639133 (GRCh38)
15:59931332 (GRCh37)
Canonical SPDI:: NC_000015.10:59639132:C:G,NC_000015.10:59639132:C:T
Gene:: GTF2A2 (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.59639133C>G, NC_000015.10:g.59639133C>T, NC_000015.9:g.59931332C>G, NC_000015.9:g.59931332C>T, NM_004492.3:c.329G>C, NM_004492.3:c.329G>A, NM_004492.2:c.329G>C, NM_004492.2:c.329G>A, NM_001320930.2:c.329G>C, NM_001320930.2:c.329G>A, NM_001320930.1:c.329G>C, NM_001320930.1:c.329G>A, NM_001320929.2:c.329G>C, NM_001320929.2:c.329G>A, NM_001320929.1:c.329G>C, NM_001320929.1:c.329G>A, NP_004483.1:p.Ter110Ser, NP_001307859.1:p.Ter110Ser, NP_001307858.1:p.Ter110Ser

Select item 144191804211.

rs1441918042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:59642167 (GRCh38)
15:59934366 (GRCh37)
Canonical SPDI:: NC_000015.10:59642166:A:G
Gene:: GTF2A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.59642167A>G, NC_000015.9:g.59934366A>G, NM_004492.3:c.273T>C, NM_004492.2:c.273T>C, NM_001320930.2:c.273T>C, NM_001320930.1:c.273T>C, NM_001320929.2:c.273T>C, NM_001320929.1:c.273T>C

Select item 143659843312.

rs1436598433 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:59642195 (GRCh38)
15:59934394 (GRCh37)
Canonical SPDI:: NC_000015.10:59642190:CTCTCT:CTCT
Gene:: GTF2A2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.59642191CT[2], NC_000015.9:g.59934390CT[2], NM_004492.3:c.248_249del, NM_004492.2:c.248_249del, NM_001320930.2:c.248_249del, NM_001320930.1:c.248_249del, NM_001320929.2:c.248_249del, NM_001320929.1:c.248_249del, NP_004483.1:p.Glu83fs, NP_001307859.1:p.Glu83fs, NP_001307858.1:p.Glu83fs

Select item 142610604813.

rs1426106048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:59642208 (GRCh38)
15:59934407 (GRCh37)
Canonical SPDI:: NC_000015.10:59642207:C:A
Gene:: GTF2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.59642208C>A, NC_000015.9:g.59934407C>A, NM_004492.3:c.232G>T, NM_004492.2:c.232G>T, NM_001320930.2:c.232G>T, NM_001320930.1:c.232G>T, NM_001320929.2:c.232G>T, NM_001320929.1:c.232G>T, NP_004483.1:p.Asp78Tyr, NP_001307859.1:p.Asp78Tyr, NP_001307858.1:p.Asp78Tyr

Select item 141610825614.

rs1416108256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:59642225 (GRCh38)
15:59934424 (GRCh37)
Canonical SPDI:: NC_000015.10:59642224:C:A
Gene:: GTF2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.59642225C>A, NC_000015.9:g.59934424C>A, NM_004492.3:c.215G>T, NM_004492.2:c.215G>T, NM_001320930.2:c.215G>T, NM_001320930.1:c.215G>T, NM_001320929.2:c.215G>T, NM_001320929.1:c.215G>T, NP_004483.1:p.Trp72Leu, NP_001307859.1:p.Trp72Leu, NP_001307858.1:p.Trp72Leu

Select item 140679341015.

rs1406793410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:59652215 (GRCh38)
15:59944414 (GRCh37)
Canonical SPDI:: NC_000015.10:59652214:C:G,NC_000015.10:59652214:C:T
Gene:: GTF2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.59652215C>G, NC_000015.10:g.59652215C>T, NC_000015.9:g.59944414C>G, NC_000015.9:g.59944414C>T, NM_004492.3:c.63G>C, NM_004492.3:c.63G>A, NM_004492.2:c.63G>C, NM_004492.2:c.63G>A, NM_001320930.2:c.63G>C, NM_001320930.2:c.63G>A, NM_001320930.1:c.63G>C, NM_001320930.1:c.63G>A, NM_001320929.2:c.63G>C, NM_001320929.2:c.63G>A, NM_001320929.1:c.63G>C, NM_001320929.1:c.63G>A, NP_004483.1:p.Glu21Asp, NP_001307859.1:p.Glu21Asp, NP_001307858.1:p.Glu21Asp

Select item 139648994216.

rs1396489942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:59642231 (GRCh38)
15:59934430 (GRCh37)
Canonical SPDI:: NC_000015.10:59642230:T:C
Gene:: GTF2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000015.10:g.59642231T>C, NC_000015.9:g.59934430T>C, NM_004492.3:c.209A>G, NM_004492.2:c.209A>G, NM_001320930.2:c.209A>G, NM_001320930.1:c.209A>G, NM_001320929.2:c.209A>G, NM_001320929.1:c.209A>G, NP_004483.1:p.Asn70Ser, NP_001307859.1:p.Asn70Ser, NP_001307858.1:p.Asn70Ser

Select item 139247934617.

rs1392479346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:59650691 (GRCh38)
15:59942890 (GRCh37)
Canonical SPDI:: NC_000015.10:59650690:A:T
Gene:: GTF2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.59650691A>T, NC_000015.9:g.59942890A>T, NM_004492.3:c.155T>A, NM_004492.2:c.155T>A, NM_001320930.2:c.155T>A, NM_001320930.1:c.155T>A, NM_001320929.2:c.155T>A, NM_001320929.1:c.155T>A, NP_004483.1:p.Val52Asp, NP_001307859.1:p.Val52Asp, NP_001307858.1:p.Val52Asp

Select item 138845162718.

rs1388451627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:59650762 (GRCh38)
15:59942961 (GRCh37)
Canonical SPDI:: NC_000015.10:59650761:G:A
Gene:: GTF2A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.59650762G>A, NC_000015.9:g.59942961G>A, NM_004492.3:c.84C>T, NM_004492.2:c.84C>T, NM_001320930.2:c.84C>T, NM_001320930.1:c.84C>T, NM_001320929.2:c.84C>T, NM_001320929.1:c.84C>T

Select item 137430056419.

rs1374300564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:59642221 (GRCh38)
15:59934420 (GRCh37)
Canonical SPDI:: NC_000015.10:59642220:A:C
Gene:: GTF2A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.59642221A>C, NC_000015.9:g.59934420A>C, NM_004492.3:c.219T>G, NM_004492.2:c.219T>G, NM_001320930.2:c.219T>G, NM_001320930.1:c.219T>G, NM_001320929.2:c.219T>G, NM_001320929.1:c.219T>G

Select item 136806409420.

rs1368064094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:59650704 (GRCh38)
15:59942903 (GRCh37)
Canonical SPDI:: NC_000015.10:59650703:G:A,NC_000015.10:59650703:G:T
Gene:: GTF2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.59650704G>A, NC_000015.10:g.59650704G>T, NC_000015.9:g.59942903G>A, NC_000015.9:g.59942903G>T, NM_004492.3:c.142C>T, NM_004492.3:c.142C>A, NM_004492.2:c.142C>T, NM_004492.2:c.142C>A, NM_001320930.2:c.142C>T, NM_001320930.2:c.142C>A, NM_001320930.1:c.142C>T, NM_001320930.1:c.142C>A, NM_001320929.2:c.142C>T, NM_001320929.2:c.142C>A, NM_001320929.1:c.142C>T, NM_001320929.1:c.142C>A, NP_004483.1:p.Leu48Met, NP_001307859.1:p.Leu48Met, NP_001307858.1:p.Leu48Met

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