Canonical Allele Identifier: CA346734944
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 631192
ClinVar RCV Id: RCV000777354 RCV001203220
dbSNP Id: rs1284504549
gnomAD v2: 2-48010524-G-T
MyVariant Identifiers: chr2:g.48010524G>T (hg19) chr2:g.47783385G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783385G>T , CM000664.2:g.47783385G>T GRCh38
NC_000002.11:g.48010524G>T , CM000664.1:g.48010524G>T GRCh37
NC_000002.10:g.47864028G>T NCBI36
NG_007111.1:g.5239G>T , LRG_219:g.5239G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.152G>T ENSP00000514752.2:p.Ser51Ile
ENST00000699999.1:n.236G>T
ENST00000700000.1:c.152G>T ENSP00000514749.1:p.Ser51Ile
ENST00000700001.1:n.224G>T
ENST00000700002.1:c.152G>T ENSP00000514750.1:p.Ser51Ile
ENST00000700003.1:c.152G>T ENSP00000514751.1:p.Ser51Ile
ENST00000234420.11:c.152G>T MANE Select ENSP00000234420.5:p.Ser51Ile
ENST00000540021.6:c.152G>T ENSP00000446475.1:p.Ser51Ile
ENST00000652107.1:c.-37-7542G>T ENSP00000498629.1:n.-37-7542G>T
ENST00000673637.1:c.-38+154G>T ENSP00000501310.1:n.-38+154G>T
ENST00000673922.1:n.241G>T
ENST00000234420.9:c.152G>T ENSP00000234420.4:p.Ser51Ile
ENST00000445503.5:c.152G>T ENSP00000405294.1:p.Ser51Ile
ENST00000456246.1:c.152G>T ENSP00000410570.1:p.Ser51Ile
ENST00000493177.1:n.216G>T
ENST00000540021.5:c.152G>T ENSP00000446475.1:p.Ser51Ile
ENST00000606499.1:c.-37-7542G>T ENSP00000475605.1:n.-37-7542G>T
ENST00000614496.4:c.-585G>T ENSP00000477844.1:n.-585G>T
ENST00000616033.4:c.150G>T ENSP00000480261.1:p.Glu50Asp
ENST00000622629.4:c.-2945G>T ENSP00000482078.1:n.-2945G>T
NM_000179.2:c.152G>T , LRG_219t1:c.152G>T NP_000170.1:p.Ser51Ile
NM_001281492.1:c.152G>T NP_001268421.1:p.Ser51Ile
NM_001281493.1:c.-585G>T NP_001268422.1:n.-585G>T
XM_011532800.1:c.-38+154G>T XP_011531102.1:n.-38+154G>T
XM_024452819.1:c.152G>T XP_024308587.1:p.Ser51Ile
XM_024452822.1:c.-585G>T XP_024308590.1:n.-585G>T
NM_000179.3:c.152G>T MANE Select NP_000170.1:p.Ser51Ile
NM_001281492.2:c.152G>T NP_001268421.1:p.Ser51Ile
NM_001281493.2:c.-585G>T NP_001268422.1:n.-585G>T
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