SNP Links for Protein (Select 8923528) - SNP

Links from Protein

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Select item 14909818971.

rs1490981897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:70181380 (GRCh38)
2:70408512 (GRCh37)
Canonical SPDI:: NC_000002.12:70181379:C:A
Gene:: C2orf42 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000002.12:g.70181380C>A, NC_000002.11:g.70408512C>A, NM_017880.3:c.606G>T, NM_017880.2:c.606G>T, NM_017880.1:c.606G>T, NM_001348758.2:c.606G>T, NM_001348758.1:c.606G>T, NR_145972.2:n.1364G>T, NR_145972.1:n.1056G>T, NM_001348764.2:c.606G>T, NM_001348764.1:c.606G>T, NR_145970.2:n.1216G>T, NR_145970.1:n.1123G>T, NM_001348763.2:c.606G>T, NM_001348763.1:c.606G>T, NR_145971.2:n.1364G>T, NR_145971.1:n.1056G>T, NM_001348760.2:c.606G>T, NM_001348760.1:c.606G>T, NR_145968.2:n.989G>T, NR_145968.1:n.1041G>T, NM_001348761.2:c.606G>T, NM_001348761.1:c.606G>T, NM_001348759.2:c.606G>T, NM_001348759.1:c.606G>T, NM_001348762.2:c.606G>T, NM_001348762.1:c.606G>T, NR_145969.2:n.989G>T, NR_145969.1:n.1041G>T, NR_145967.2:n.934G>T, NR_145967.1:n.986G>T, XM_047444838.1:c.606G>T

Select item 14896769462.

rs1489676946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70179581 (GRCh38)
2:70406713 (GRCh37)
Canonical SPDI:: NC_000002.12:70179580:A:G
Gene:: C2orf42 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_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_000002.12:g.70179581A>G, NC_000002.11:g.70406713A>G, NM_017880.3:c.885T>C, NM_017880.2:c.885T>C, NM_017880.1:c.885T>C, NM_001348758.2:c.885T>C, NM_001348758.1:c.885T>C, NR_145972.2:n.1643T>C, NR_145972.1:n.1335T>C, NM_001348764.2:c.885T>C, NM_001348764.1:c.885T>C, NR_145970.2:n.1495T>C, NR_145970.1:n.1402T>C, NM_001348763.2:c.885T>C, NM_001348763.1:c.885T>C, NR_145971.2:n.1643T>C, NR_145971.1:n.1335T>C, NM_001348760.2:c.885T>C, NM_001348760.1:c.885T>C, NR_145968.2:n.1268T>C, NR_145968.1:n.1320T>C, NM_001348761.2:c.885T>C, NM_001348761.1:c.885T>C, NM_001348759.2:c.885T>C, NM_001348759.1:c.885T>C, NM_001348762.2:c.885T>C, NM_001348762.1:c.885T>C, NR_145969.2:n.1268T>C, NR_145969.1:n.1320T>C, NR_145967.2:n.1213T>C, NR_145967.1:n.1265T>C, XM_047444838.1:c.885T>C

Select item 14872670943.

rs1487267094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70181507 (GRCh38)
2:70408639 (GRCh37)
Canonical SPDI:: NC_000002.12:70181506:T:C
Gene:: C2orf42 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.70181507T>C, NC_000002.11:g.70408639T>C, NM_017880.3:c.479A>G, NM_017880.2:c.479A>G, NM_017880.1:c.479A>G, NM_001348758.2:c.479A>G, NM_001348758.1:c.479A>G, NR_145972.2:n.1237A>G, NR_145972.1:n.929A>G, NM_001348764.2:c.479A>G, NM_001348764.1:c.479A>G, NR_145970.2:n.1089A>G, NR_145970.1:n.996A>G, NM_001348763.2:c.479A>G, NM_001348763.1:c.479A>G, NR_145971.2:n.1237A>G, NR_145971.1:n.929A>G, NM_001348760.2:c.479A>G, NM_001348760.1:c.479A>G, NR_145968.2:n.862A>G, NR_145968.1:n.914A>G, NM_001348761.2:c.479A>G, NM_001348761.1:c.479A>G, NM_001348759.2:c.479A>G, NM_001348759.1:c.479A>G, NM_001348762.2:c.479A>G, NM_001348762.1:c.479A>G, NR_145969.2:n.862A>G, NR_145969.1:n.914A>G, NR_145967.2:n.807A>G, NR_145967.1:n.859A>G, XM_047444838.1:c.479A>G, NP_060350.1:p.Gln160Arg, NP_001335687.1:p.Gln160Arg, NP_001335693.1:p.Gln160Arg, NP_001335692.1:p.Gln160Arg, NP_001335689.1:p.Gln160Arg, NP_001335690.1:p.Gln160Arg, NP_001335688.1:p.Gln160Arg, NP_001335691.1:p.Gln160Arg, XP_047300794.1:p.Gln160Arg

Select item 14862096274.

rs1486209627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70181521 (GRCh38)
2:70408653 (GRCh37)
Canonical SPDI:: NC_000002.12:70181520:G:A
Gene:: C2orf42 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000002.12:g.70181521G>A, NC_000002.11:g.70408653G>A, NM_017880.3:c.465C>T, NM_017880.2:c.465C>T, NM_017880.1:c.465C>T, NM_001348758.2:c.465C>T, NM_001348758.1:c.465C>T, NR_145972.2:n.1223C>T, NR_145972.1:n.915C>T, NM_001348764.2:c.465C>T, NM_001348764.1:c.465C>T, NR_145970.2:n.1075C>T, NR_145970.1:n.982C>T, NM_001348763.2:c.465C>T, NM_001348763.1:c.465C>T, NR_145971.2:n.1223C>T, NR_145971.1:n.915C>T, NM_001348760.2:c.465C>T, NM_001348760.1:c.465C>T, NR_145968.2:n.848C>T, NR_145968.1:n.900C>T, NM_001348761.2:c.465C>T, NM_001348761.1:c.465C>T, NM_001348759.2:c.465C>T, NM_001348759.1:c.465C>T, NM_001348762.2:c.465C>T, NM_001348762.1:c.465C>T, NR_145969.2:n.848C>T, NR_145969.1:n.900C>T, NR_145967.2:n.793C>T, NR_145967.1:n.845C>T, XM_047444838.1:c.465C>T

Select item 14852534865.

rs1485253486 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:70181414 (GRCh38)
2:70408546 (GRCh37)
Canonical SPDI:: NC_000002.12:70181413:A:C
Gene:: C2orf42 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.70181414A>C, NC_000002.11:g.70408546A>C, NM_017880.3:c.572T>G, NM_017880.2:c.572T>G, NM_017880.1:c.572T>G, NM_001348758.2:c.572T>G, NM_001348758.1:c.572T>G, NR_145972.2:n.1330T>G, NR_145972.1:n.1022T>G, NM_001348764.2:c.572T>G, NM_001348764.1:c.572T>G, NR_145970.2:n.1182T>G, NR_145970.1:n.1089T>G, NM_001348763.2:c.572T>G, NM_001348763.1:c.572T>G, NR_145971.2:n.1330T>G, NR_145971.1:n.1022T>G, NM_001348760.2:c.572T>G, NM_001348760.1:c.572T>G, NR_145968.2:n.955T>G, NR_145968.1:n.1007T>G, NM_001348761.2:c.572T>G, NM_001348761.1:c.572T>G, NM_001348759.2:c.572T>G, NM_001348759.1:c.572T>G, NM_001348762.2:c.572T>G, NM_001348762.1:c.572T>G, NR_145969.2:n.955T>G, NR_145969.1:n.1007T>G, NR_145967.2:n.900T>G, NR_145967.1:n.952T>G, XM_047444838.1:c.572T>G, NP_060350.1:p.Val191Gly, NP_001335687.1:p.Val191Gly, NP_001335693.1:p.Val191Gly, NP_001335692.1:p.Val191Gly, NP_001335689.1:p.Val191Gly, NP_001335690.1:p.Val191Gly, NP_001335688.1:p.Val191Gly, NP_001335691.1:p.Val191Gly, XP_047300794.1:p.Val191Gly

Select item 14848410206.

rs1484841020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70165621 (GRCh38)
2:70392753 (GRCh37)
Canonical SPDI:: NC_000002.12:70165620:A:G
Gene:: C2orf42 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.70165621A>G, NC_000002.11:g.70392753A>G, NM_017880.3:c.1159T>C, NM_017880.2:c.1159T>C, NM_017880.1:c.1159T>C, NM_001348758.2:c.1159T>C, NM_001348758.1:c.1159T>C, NR_145972.2:n.1917T>C, NR_145972.1:n.1609T>C, NM_001348764.2:c.1159T>C, NM_001348764.1:c.1159T>C, NR_145970.2:n.1769T>C, NR_145970.1:n.1676T>C, NM_001348763.2:c.1159T>C, NM_001348763.1:c.1159T>C, NR_145971.2:n.1917T>C, NR_145971.1:n.1609T>C, NM_001348760.2:c.1159T>C, NM_001348760.1:c.1159T>C, NR_145968.2:n.1542T>C, NR_145968.1:n.1594T>C, NM_001348761.2:c.1159T>C, NM_001348761.1:c.1159T>C, NM_001348759.2:c.1159T>C, NM_001348759.1:c.1159T>C, NM_001348762.2:c.1159T>C, NM_001348762.1:c.1159T>C, NR_145969.2:n.1542T>C, NR_145969.1:n.1594T>C, NR_145967.2:n.1487T>C, NR_145967.1:n.1539T>C, XM_047444838.1:c.1159T>C

Select item 14831758427.

rs1483175842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70165143 (GRCh38)
2:70392275 (GRCh37)
Canonical SPDI:: NC_000002.12:70165142:A:G
Gene:: C2orf42 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70165143A>G, NC_000002.11:g.70392275A>G, NM_017880.3:c.1302T>C, NM_017880.2:c.1302T>C, NM_017880.1:c.1302T>C, NM_001348758.2:c.1302T>C, NM_001348758.1:c.1302T>C, NR_145972.2:n.2060T>C, NR_145972.1:n.1752T>C, NM_001348764.2:c.1302T>C, NM_001348764.1:c.1302T>C, NR_145970.2:n.1912T>C, NR_145970.1:n.1819T>C, NM_001348763.2:c.1302T>C, NM_001348763.1:c.1302T>C, NM_001348760.2:c.1302T>C, NM_001348760.1:c.1302T>C, NR_145968.2:n.1685T>C, NR_145968.1:n.1737T>C, NM_001348761.2:c.1302T>C, NM_001348761.1:c.1302T>C, NM_001348759.2:c.1302T>C, NM_001348759.1:c.1302T>C, NM_001348762.2:c.1302T>C, NM_001348762.1:c.1302T>C, XM_047444838.1:c.1302T>C

Select item 14828032708.

rs1482803270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70169575 (GRCh38)
2:70396707 (GRCh37)
Canonical SPDI:: NC_000002.12:70169574:T:C
Gene:: C2orf42 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70169575T>C, NC_000002.11:g.70396707T>C, NM_017880.3:c.1126A>G, NM_017880.2:c.1126A>G, NM_017880.1:c.1126A>G, NM_001348758.2:c.1126A>G, NM_001348758.1:c.1126A>G, NR_145972.2:n.1884A>G, NR_145972.1:n.1576A>G, NM_001348764.2:c.1126A>G, NM_001348764.1:c.1126A>G, NR_145970.2:n.1736A>G, NR_145970.1:n.1643A>G, NM_001348763.2:c.1126A>G, NM_001348763.1:c.1126A>G, NR_145971.2:n.1884A>G, NR_145971.1:n.1576A>G, NM_001348760.2:c.1126A>G, NM_001348760.1:c.1126A>G, NR_145968.2:n.1509A>G, NR_145968.1:n.1561A>G, NM_001348761.2:c.1126A>G, NM_001348761.1:c.1126A>G, NM_001348759.2:c.1126A>G, NM_001348759.1:c.1126A>G, NM_001348762.2:c.1126A>G, NM_001348762.1:c.1126A>G, NR_145969.2:n.1509A>G, NR_145969.1:n.1561A>G, NR_145967.2:n.1454A>G, NR_145967.1:n.1506A>G, XM_047444838.1:c.1126A>G, NP_060350.1:p.Met376Val, NP_001335687.1:p.Met376Val, NP_001335693.1:p.Met376Val, NP_001335692.1:p.Met376Val, NP_001335689.1:p.Met376Val, NP_001335690.1:p.Met376Val, NP_001335688.1:p.Met376Val, NP_001335691.1:p.Met376Val, XP_047300794.1:p.Met376Val

Select item 14794315989.

rs1479431598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:70160650 (GRCh38)
2:70387782 (GRCh37)
Canonical SPDI:: NC_000002.12:70160649:C:A
Gene:: C2orf42 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70160650C>A, NC_000002.11:g.70387782C>A, NM_017880.3:c.1491G>T, NM_017880.2:c.1491G>T, NM_017880.1:c.1491G>T, NM_001348758.2:c.1491G>T, NM_001348758.1:c.1491G>T, NR_145972.2:n.2249G>T, NR_145972.1:n.1941G>T, NM_001348764.2:c.1491G>T, NM_001348764.1:c.1491G>T, NR_145970.2:n.2101G>T, NR_145970.1:n.2008G>T, NM_001348763.2:c.1491G>T, NM_001348763.1:c.1491G>T, NR_145971.2:n.2148G>T, NR_145971.1:n.1840G>T, NM_001348760.2:c.1491G>T, NM_001348760.1:c.1491G>T, NR_145968.2:n.1874G>T, NR_145968.1:n.1926G>T, NM_001348761.2:c.1491G>T, NM_001348761.1:c.1491G>T, NM_001348759.2:c.1491G>T, NM_001348759.1:c.1491G>T, NM_001348762.2:c.1491G>T, NM_001348762.1:c.1491G>T, NR_145969.2:n.1773G>T, NR_145969.1:n.1825G>T, NR_145967.2:n.1718G>T, NR_145967.1:n.1770G>T, XM_047444838.1:c.1491G>T, NP_060350.1:p.Leu497Phe, NP_001335687.1:p.Leu497Phe, NP_001335693.1:p.Leu497Phe, NP_001335692.1:p.Leu497Phe, NP_001335689.1:p.Leu497Phe, NP_001335690.1:p.Leu497Phe, NP_001335688.1:p.Leu497Phe, NP_001335691.1:p.Leu497Phe, XP_047300794.1:p.Leu497Phe

Select item 147675339110.

rs1476753391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:70169661 (GRCh38)
2:70396793 (GRCh37)
Canonical SPDI:: NC_000002.12:70169660:G:C
Gene:: C2orf42 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.70169661G>C, NC_000002.11:g.70396793G>C, NM_017880.3:c.1040C>G, NM_017880.2:c.1040C>G, NM_017880.1:c.1040C>G, NM_001348758.2:c.1040C>G, NM_001348758.1:c.1040C>G, NR_145972.2:n.1798C>G, NR_145972.1:n.1490C>G, NM_001348764.2:c.1040C>G, NM_001348764.1:c.1040C>G, NR_145970.2:n.1650C>G, NR_145970.1:n.1557C>G, NM_001348763.2:c.1040C>G, NM_001348763.1:c.1040C>G, NR_145971.2:n.1798C>G, NR_145971.1:n.1490C>G, NM_001348760.2:c.1040C>G, NM_001348760.1:c.1040C>G, NR_145968.2:n.1423C>G, NR_145968.1:n.1475C>G, NM_001348761.2:c.1040C>G, NM_001348761.1:c.1040C>G, NM_001348759.2:c.1040C>G, NM_001348759.1:c.1040C>G, NM_001348762.2:c.1040C>G, NM_001348762.1:c.1040C>G, NR_145969.2:n.1423C>G, NR_145969.1:n.1475C>G, NR_145967.2:n.1368C>G, NR_145967.1:n.1420C>G, XM_047444838.1:c.1040C>G, NP_060350.1:p.Ala347Gly, NP_001335687.1:p.Ala347Gly, NP_001335693.1:p.Ala347Gly, NP_001335692.1:p.Ala347Gly, NP_001335689.1:p.Ala347Gly, NP_001335690.1:p.Ala347Gly, NP_001335688.1:p.Ala347Gly, NP_001335691.1:p.Ala347Gly, XP_047300794.1:p.Ala347Gly

Select item 147357540311.

rs1473575403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70181556 (GRCh38)
2:70408688 (GRCh37)
Canonical SPDI:: NC_000002.12:70181555:C:T
Gene:: C2orf42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.70181556C>T, NC_000002.11:g.70408688C>T, NM_017880.3:c.430G>A, NM_017880.2:c.430G>A, NM_017880.1:c.430G>A, NM_001348758.2:c.430G>A, NM_001348758.1:c.430G>A, NR_145972.2:n.1188G>A, NR_145972.1:n.880G>A, NM_001348764.2:c.430G>A, NM_001348764.1:c.430G>A, NR_145970.2:n.1040G>A, NR_145970.1:n.947G>A, NM_001348763.2:c.430G>A, NM_001348763.1:c.430G>A, NR_145971.2:n.1188G>A, NR_145971.1:n.880G>A, NM_001348760.2:c.430G>A, NM_001348760.1:c.430G>A, NR_145968.2:n.813G>A, NR_145968.1:n.865G>A, NM_001348761.2:c.430G>A, NM_001348761.1:c.430G>A, NM_001348759.2:c.430G>A, NM_001348759.1:c.430G>A, NM_001348762.2:c.430G>A, NM_001348762.1:c.430G>A, NR_145969.2:n.813G>A, NR_145969.1:n.865G>A, NR_145967.2:n.758G>A, NR_145967.1:n.810G>A, XM_047444838.1:c.430G>A, NP_060350.1:p.Ala144Thr, NP_001335687.1:p.Ala144Thr, NP_001335693.1:p.Ala144Thr, NP_001335692.1:p.Ala144Thr, NP_001335689.1:p.Ala144Thr, NP_001335690.1:p.Ala144Thr, NP_001335688.1:p.Ala144Thr, NP_001335691.1:p.Ala144Thr, XP_047300794.1:p.Ala144Thr

Select item 147344780812.

rs1473447808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70165528 (GRCh38)
2:70392660 (GRCh37)
Canonical SPDI:: NC_000002.12:70165527:C:T
Gene:: C2orf42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.70165528C>T, NC_000002.11:g.70392660C>T, NM_017880.3:c.1252G>A, NM_017880.2:c.1252G>A, NM_017880.1:c.1252G>A, NM_001348758.2:c.1252G>A, NM_001348758.1:c.1252G>A, NR_145972.2:n.2010G>A, NR_145972.1:n.1702G>A, NM_001348764.2:c.1252G>A, NM_001348764.1:c.1252G>A, NR_145970.2:n.1862G>A, NR_145970.1:n.1769G>A, NM_001348763.2:c.1252G>A, NM_001348763.1:c.1252G>A, NR_145971.2:n.2010G>A, NR_145971.1:n.1702G>A, NM_001348760.2:c.1252G>A, NM_001348760.1:c.1252G>A, NR_145968.2:n.1635G>A, NR_145968.1:n.1687G>A, NM_001348761.2:c.1252G>A, NM_001348761.1:c.1252G>A, NM_001348759.2:c.1252G>A, NM_001348759.1:c.1252G>A, NM_001348762.2:c.1252G>A, NM_001348762.1:c.1252G>A, NR_145969.2:n.1635G>A, NR_145969.1:n.1687G>A, NR_145967.2:n.1580G>A, NR_145967.1:n.1632G>A, XM_047444838.1:c.1252G>A, NP_060350.1:p.Ala418Thr, NP_001335687.1:p.Ala418Thr, NP_001335693.1:p.Ala418Thr, NP_001335692.1:p.Ala418Thr, NP_001335689.1:p.Ala418Thr, NP_001335690.1:p.Ala418Thr, NP_001335688.1:p.Ala418Thr, NP_001335691.1:p.Ala418Thr, XP_047300794.1:p.Ala418Thr

Select item 146814129913.

rs1468141299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70160710 (GRCh38)
2:70387842 (GRCh37)
Canonical SPDI:: NC_000002.12:70160709:T:C
Gene:: C2orf42 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000002.12:g.70160710T>C, NC_000002.11:g.70387842T>C, NM_017880.3:c.1431A>G, NM_017880.2:c.1431A>G, NM_017880.1:c.1431A>G, NM_001348758.2:c.1431A>G, NM_001348758.1:c.1431A>G, NR_145972.2:n.2189A>G, NR_145972.1:n.1881A>G, NM_001348764.2:c.1431A>G, NM_001348764.1:c.1431A>G, NR_145970.2:n.2041A>G, NR_145970.1:n.1948A>G, NM_001348763.2:c.1431A>G, NM_001348763.1:c.1431A>G, NR_145971.2:n.2088A>G, NR_145971.1:n.1780A>G, NM_001348760.2:c.1431A>G, NM_001348760.1:c.1431A>G, NR_145968.2:n.1814A>G, NR_145968.1:n.1866A>G, NM_001348761.2:c.1431A>G, NM_001348761.1:c.1431A>G, NM_001348759.2:c.1431A>G, NM_001348759.1:c.1431A>G, NM_001348762.2:c.1431A>G, NM_001348762.1:c.1431A>G, NR_145969.2:n.1713A>G, NR_145969.1:n.1765A>G, NR_145967.2:n.1658A>G, NR_145967.1:n.1710A>G, XM_047444838.1:c.1431A>G

Select item 146802010614.

rs1468020106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:70150398 (GRCh38)
2:70377530 (GRCh37)
Canonical SPDI:: NC_000002.12:70150397:C:G,NC_000002.12:70150397:C:T
Gene:: C2orf42 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70150398C>G, NC_000002.12:g.70150398C>T, NC_000002.11:g.70377530C>G, NC_000002.11:g.70377530C>T, NM_017880.3:c.1683G>C, NM_017880.3:c.1683G>A, NM_017880.2:c.1683G>C, NM_017880.2:c.1683G>A, NM_017880.1:c.1683G>C, NM_017880.1:c.1683G>A, NM_001348758.2:c.1683G>C, NM_001348758.2:c.1683G>A, NM_001348758.1:c.1683G>C, NM_001348758.1:c.1683G>A, NR_145972.2:n.2618G>C, NR_145972.2:n.2618G>A, NR_145972.1:n.2310G>C, NR_145972.1:n.2310G>A, NM_001348764.2:c.1683G>C, NM_001348764.2:c.1683G>A, NM_001348764.1:c.1683G>C, NM_001348764.1:c.1683G>A, NR_145970.2:n.2473G>C, NR_145970.2:n.2473G>A, NR_145970.1:n.2380G>C, NR_145970.1:n.2380G>A, NM_001348763.2:c.1683G>C, NM_001348763.2:c.1683G>A, NM_001348763.1:c.1683G>C, NM_001348763.1:c.1683G>A, NR_145971.2:n.2340G>C, NR_145971.2:n.2340G>A, NR_145971.1:n.2032G>C, NR_145971.1:n.2032G>A, NM_001348760.2:c.1683G>C, NM_001348760.2:c.1683G>A, NM_001348760.1:c.1683G>C, NM_001348760.1:c.1683G>A, NR_145968.2:n.2246G>C, NR_145968.2:n.2246G>A, NR_145968.1:n.2298G>C, NR_145968.1:n.2298G>A, NM_001348761.2:c.1683G>C, NM_001348761.2:c.1683G>A, NM_001348761.1:c.1683G>C, NM_001348761.1:c.1683G>A, NM_001348759.2:c.1683G>C, NM_001348759.2:c.1683G>A, NM_001348759.1:c.1683G>C, NM_001348759.1:c.1683G>A, NM_001348762.2:c.1683G>C, NM_001348762.2:c.1683G>A, NM_001348762.1:c.1683G>C, NM_001348762.1:c.1683G>A, NR_145969.2:n.1965G>C, NR_145969.2:n.1965G>A, NR_145969.1:n.2017G>C, NR_145969.1:n.2017G>A, NR_145967.2:n.1910G>C, NR_145967.2:n.1910G>A, NR_145967.1:n.1962G>C, NR_145967.1:n.1962G>A, XM_047444838.1:c.1683G>C, XM_047444838.1:c.1683G>A, NP_060350.1:p.Gln561His, NP_001335687.1:p.Gln561His, NP_001335693.1:p.Gln561His, NP_001335692.1:p.Gln561His, NP_001335689.1:p.Gln561His, NP_001335690.1:p.Gln561His, NP_001335688.1:p.Gln561His, NP_001335691.1:p.Gln561His, XP_047300794.1:p.Gln561His

Select item 146788840115.

rs1467888401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:70169583 (GRCh38)
2:70396715 (GRCh37)
Canonical SPDI:: NC_000002.12:70169582:T:A
Gene:: C2orf42 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70169583T>A, NC_000002.11:g.70396715T>A, NM_017880.3:c.1118A>T, NM_017880.2:c.1118A>T, NM_017880.1:c.1118A>T, NM_001348758.2:c.1118A>T, NM_001348758.1:c.1118A>T, NR_145972.2:n.1876A>T, NR_145972.1:n.1568A>T, NM_001348764.2:c.1118A>T, NM_001348764.1:c.1118A>T, NR_145970.2:n.1728A>T, NR_145970.1:n.1635A>T, NM_001348763.2:c.1118A>T, NM_001348763.1:c.1118A>T, NR_145971.2:n.1876A>T, NR_145971.1:n.1568A>T, NM_001348760.2:c.1118A>T, NM_001348760.1:c.1118A>T, NR_145968.2:n.1501A>T, NR_145968.1:n.1553A>T, NM_001348761.2:c.1118A>T, NM_001348761.1:c.1118A>T, NM_001348759.2:c.1118A>T, NM_001348759.1:c.1118A>T, NM_001348762.2:c.1118A>T, NM_001348762.1:c.1118A>T, NR_145969.2:n.1501A>T, NR_145969.1:n.1553A>T, NR_145967.2:n.1446A>T, NR_145967.1:n.1498A>T, XM_047444838.1:c.1118A>T, NP_060350.1:p.His373Leu, NP_001335687.1:p.His373Leu, NP_001335693.1:p.His373Leu, NP_001335692.1:p.His373Leu, NP_001335689.1:p.His373Leu, NP_001335690.1:p.His373Leu, NP_001335688.1:p.His373Leu, NP_001335691.1:p.His373Leu, XP_047300794.1:p.His373Leu

Select item 146483667516.

rs1464836675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70181355 (GRCh38)
2:70408487 (GRCh37)
Canonical SPDI:: NC_000002.12:70181354:T:G
Gene:: C2orf42 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70181355T>G, NC_000002.11:g.70408487T>G, NM_017880.3:c.631A>C, NM_017880.2:c.631A>C, NM_017880.1:c.631A>C, NM_001348758.2:c.631A>C, NM_001348758.1:c.631A>C, NR_145972.2:n.1389A>C, NR_145972.1:n.1081A>C, NM_001348764.2:c.631A>C, NM_001348764.1:c.631A>C, NR_145970.2:n.1241A>C, NR_145970.1:n.1148A>C, NM_001348763.2:c.631A>C, NM_001348763.1:c.631A>C, NR_145971.2:n.1389A>C, NR_145971.1:n.1081A>C, NM_001348760.2:c.631A>C, NM_001348760.1:c.631A>C, NR_145968.2:n.1014A>C, NR_145968.1:n.1066A>C, NM_001348761.2:c.631A>C, NM_001348761.1:c.631A>C, NM_001348759.2:c.631A>C, NM_001348759.1:c.631A>C, NM_001348762.2:c.631A>C, NM_001348762.1:c.631A>C, NR_145969.2:n.1014A>C, NR_145969.1:n.1066A>C, NR_145967.2:n.959A>C, NR_145967.1:n.1011A>C, XM_047444838.1:c.631A>C, NP_060350.1:p.Lys211Gln, NP_001335687.1:p.Lys211Gln, NP_001335693.1:p.Lys211Gln, NP_001335692.1:p.Lys211Gln, NP_001335689.1:p.Lys211Gln, NP_001335690.1:p.Lys211Gln, NP_001335688.1:p.Lys211Gln, NP_001335691.1:p.Lys211Gln, XP_047300794.1:p.Lys211Gln

Select item 146121073417.

rs1461210734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70181787 (GRCh38)
2:70408919 (GRCh37)
Canonical SPDI:: NC_000002.12:70181786:T:G
Gene:: C2orf42 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.70181787T>G, NC_000002.11:g.70408919T>G, NM_017880.3:c.199A>C, NM_017880.2:c.199A>C, NM_017880.1:c.199A>C, NM_001348758.2:c.199A>C, NM_001348758.1:c.199A>C, NR_145972.2:n.957A>C, NR_145972.1:n.649A>C, NM_001348764.2:c.199A>C, NM_001348764.1:c.199A>C, NR_145970.2:n.809A>C, NR_145970.1:n.716A>C, NM_001348763.2:c.199A>C, NM_001348763.1:c.199A>C, NR_145971.2:n.957A>C, NR_145971.1:n.649A>C, NM_001348760.2:c.199A>C, NM_001348760.1:c.199A>C, NR_145968.2:n.582A>C, NR_145968.1:n.634A>C, NM_001348761.2:c.199A>C, NM_001348761.1:c.199A>C, NM_001348759.2:c.199A>C, NM_001348759.1:c.199A>C, NM_001348762.2:c.199A>C, NM_001348762.1:c.199A>C, NR_145969.2:n.582A>C, NR_145969.1:n.634A>C, NR_145967.2:n.527A>C, NR_145967.1:n.579A>C, XM_047444838.1:c.199A>C, NP_060350.1:p.Ile67Leu, NP_001335687.1:p.Ile67Leu, NP_001335693.1:p.Ile67Leu, NP_001335692.1:p.Ile67Leu, NP_001335689.1:p.Ile67Leu, NP_001335690.1:p.Ile67Leu, NP_001335688.1:p.Ile67Leu, NP_001335691.1:p.Ile67Leu, XP_047300794.1:p.Ile67Leu

Select item 145639881818.

rs1456398818 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTTTATGATGACCTTATTGTATTG [Show Flanks]
Chromosome:: 2:70179554 (GRCh38)
2:70406687 (GRCh37)
Canonical SPDI:: NC_000002.12:70179554::CTTTATGATGACCTTATTGTATTG
Gene:: C2orf42 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,inframe_indel,non_coding_transcript_variant
HGVS:: NC_000002.12:g.70179554_70179555insCTTTATGATGACCTTATTGTATTG, NC_000002.11:g.70406686_70406687insCTTTATGATGACCTTATTGTATTG, NM_017880.3:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_017880.2:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_017880.1:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348758.2:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348758.1:c.911_912insCAATACAATAAGGTCATCATAAAG, NR_145972.2:n.1669_1670insCAATACAATAAGGTCATCATAAAG, NR_145972.1:n.1361_1362insCAATACAATAAGGTCATCATAAAG, NM_001348764.2:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348764.1:c.911_912insCAATACAATAAGGTCATCATAAAG, NR_145970.2:n.1521_1522insCAATACAATAAGGTCATCATAAAG, NR_145970.1:n.1428_1429insCAATACAATAAGGTCATCATAAAG, NM_001348763.2:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348763.1:c.911_912insCAATACAATAAGGTCATCATAAAG, NR_145971.2:n.1669_1670insCAATACAATAAGGTCATCATAAAG, NR_145971.1:n.1361_1362insCAATACAATAAGGTCATCATAAAG, NM_001348760.2:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348760.1:c.911_912insCAATACAATAAGGTCATCATAAAG, NR_145968.2:n.1294_1295insCAATACAATAAGGTCATCATAAAG, NR_145968.1:n.1346_1347insCAATACAATAAGGTCATCATAAAG, NM_001348761.2:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348761.1:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348759.2:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348759.1:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348762.2:c.911_912insCAATACAATAAGGTCATCATAAAG, NM_001348762.1:c.911_912insCAATACAATAAGGTCATCATAAAG, NR_145969.2:n.1294_1295insCAATACAATAAGGTCATCATAAAG, NR_145969.1:n.1346_1347insCAATACAATAAGGTCATCATAAAG, NR_145967.2:n.1239_1240insCAATACAATAAGGTCATCATAAAG, NR_145967.1:n.1291_1292insCAATACAATAAGGTCATCATAAAG, XM_047444838.1:c.911_912insCAATACAATAAGGTCATCATAAAG, NP_060350.1:p.Lys304delinsAsnAsnThrIleArgSerSerTer, NP_001335687.1:p.Lys304delinsAsnAsnThrIleArgSerSerTer, NP_001335693.1:p.Lys304delinsAsnAsnThrIleArgSerSerTer, NP_001335692.1:p.Lys304delinsAsnAsnThrIleArgSerSerTer, NP_001335689.1:p.Lys304delinsAsnAsnThrIleArgSerSerTer, NP_001335690.1:p.Lys304delinsAsnAsnThrIleArgSerSerTer, NP_001335688.1:p.Lys304delinsAsnAsnThrIleArgSerSerTer, NP_001335691.1:p.Lys304delinsAsnAsnThrIleArgSerSerTer, XP_047300794.1:p.Lys304delinsAsnAsnThrIleArgSerSerTer

Select item 145551027219.

rs1455510272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70179637 (GRCh38)
2:70406769 (GRCh37)
Canonical SPDI:: NC_000002.12:70179636:T:C
Gene:: C2orf42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.70179637T>C, NC_000002.11:g.70406769T>C, NM_017880.3:c.829A>G, NM_017880.2:c.829A>G, NM_017880.1:c.829A>G, NM_001348758.2:c.829A>G, NM_001348758.1:c.829A>G, NR_145972.2:n.1587A>G, NR_145972.1:n.1279A>G, NM_001348764.2:c.829A>G, NM_001348764.1:c.829A>G, NR_145970.2:n.1439A>G, NR_145970.1:n.1346A>G, NM_001348763.2:c.829A>G, NM_001348763.1:c.829A>G, NR_145971.2:n.1587A>G, NR_145971.1:n.1279A>G, NM_001348760.2:c.829A>G, NM_001348760.1:c.829A>G, NR_145968.2:n.1212A>G, NR_145968.1:n.1264A>G, NM_001348761.2:c.829A>G, NM_001348761.1:c.829A>G, NM_001348759.2:c.829A>G, NM_001348759.1:c.829A>G, NM_001348762.2:c.829A>G, NM_001348762.1:c.829A>G, NR_145969.2:n.1212A>G, NR_145969.1:n.1264A>G, NR_145967.2:n.1157A>G, NR_145967.1:n.1209A>G, XM_047444838.1:c.829A>G, NP_060350.1:p.Lys277Glu, NP_001335687.1:p.Lys277Glu, NP_001335693.1:p.Lys277Glu, NP_001335692.1:p.Lys277Glu, NP_001335689.1:p.Lys277Glu, NP_001335690.1:p.Lys277Glu, NP_001335688.1:p.Lys277Glu, NP_001335691.1:p.Lys277Glu, XP_047300794.1:p.Lys277Glu

Select item 145507416220.

rs1455074162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70181368 (GRCh38)
2:70408500 (GRCh37)
Canonical SPDI:: NC_000002.12:70181367:T:C
Gene:: C2orf42 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70181368T>C, NC_000002.11:g.70408500T>C, NM_017880.3:c.618A>G, NM_017880.2:c.618A>G, NM_017880.1:c.618A>G, NM_001348758.2:c.618A>G, NM_001348758.1:c.618A>G, NR_145972.2:n.1376A>G, NR_145972.1:n.1068A>G, NM_001348764.2:c.618A>G, NM_001348764.1:c.618A>G, NR_145970.2:n.1228A>G, NR_145970.1:n.1135A>G, NM_001348763.2:c.618A>G, NM_001348763.1:c.618A>G, NR_145971.2:n.1376A>G, NR_145971.1:n.1068A>G, NM_001348760.2:c.618A>G, NM_001348760.1:c.618A>G, NR_145968.2:n.1001A>G, NR_145968.1:n.1053A>G, NM_001348761.2:c.618A>G, NM_001348761.1:c.618A>G, NM_001348759.2:c.618A>G, NM_001348759.1:c.618A>G, NM_001348762.2:c.618A>G, NM_001348762.1:c.618A>G, NR_145969.2:n.1001A>G, NR_145969.1:n.1053A>G, NR_145967.2:n.946A>G, NR_145967.1:n.998A>G, XM_047444838.1:c.618A>G

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