Canonical Allele Identifier: CA46678596

Gene: MSH2

Linked Data

• ClinVar Variation Id: 479819
• ClinVar RCV Id: RCV000575601 ; RCV000723272 ; RCV001858105 ; RCV004000857
• dbSNP Id: rs63750913
• gnomAD v4: 2-47410346-G-T
• MyVariant Identifiers: chr2:g.47637485G>T (hg19) ; chr2:g.47410346G>T (hg38)
• PubMed: PMID:9066723 ; PMID:18383312 ; PMID:23760103

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47410346G>T , CM000664.2:g.47410346G>T	GRCh38
NC_000002.11:g.47637485G>T , CM000664.1:g.47637485G>T	GRCh37
NC_000002.10:g.47490989G>T	NCBI36
NG_007110.2:g.12223G>T , LRG_218:g.12223G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.619G>T	ENSP00000495641.2:p.Ala207Ser
ENST00000233146.7:c.619G>T MANE Select	ENSP00000233146.2:p.Ala207Ser
ENST00000543555.6:c.421G>T	ENSP00000442697.1:p.Ala141Ser
ENST00000644092.1:c.619G>T	ENSP00000496351.1:p.Ala207Ser
ENST00000645339.1:c.619G>T	ENSP00000496441.1:p.Ala207Ser
ENST00000645506.1:c.619G>T	ENSP00000495455.1:p.Ala207Ser
ENST00000646415.1:c.619G>T	ENSP00000495543.1:p.Ala207Ser
ENST00000233146.6:c.619G>T	ENSP00000233146.2:p.Ala207Ser
ENST00000406134.5:c.619G>T	ENSP00000384199.1:p.Ala207Ser
ENST00000454849.5:c.421G>T
ENST00000543555.5:c.421G>T	ENSP00000442697.1:p.Ala141Ser
ENST00000610696.4:c.619G>T	ENSP00000483159.1:p.Ala207Ser
ENST00000613514.4:c.619G>T	ENSP00000484137.1:p.Ala207Ser
ENST00000617333.3:c.619G>T	ENSP00000482468.1:p.Ala207Ser
ENST00000617938.4:c.619G>T	ENSP00000481158.1:p.Ala207Ser
ENST00000621359.2:c.619G>T	ENSP00000481416.1:p.Ala207Ser
NM_000251.2:c.619G>T , LRG_218t1:c.619G>T	NP_000242.1:p.Ala207Ser
NM_001258281.1:c.421G>T	NP_001245210.1:p.Ala141Ser
XM_005264332.2:c.619G>T	XP_005264389.2:p.Ala207Ser
XM_011532867.1:c.619G>T	XP_011531169.1:p.Ala207Ser
XR_939685.1:n.691G>T
XM_005264332.4:c.619G>T	XP_005264389.2:p.Ala207Ser
XM_011532867.2:c.619G>T	XP_011531169.1:p.Ala207Ser
XR_001738747.2:n.681G>T
XR_939685.2:n.681G>T
NM_000251.3:c.619G>T MANE Select	NP_000242.1:p.Ala207Ser