Canonical Allele Identifier: CA425969847

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1793993
• ClinVar RCV Id: RCV002426431 ; RCV003403832 ; RCV004007438
• dbSNP Id: rs2104441643
• gnomAD v4: 2-47480862-G-A
• MyVariant Identifiers: chr2:g.47708001G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480862G>A , CM000664.2:g.47480862G>A	GRCh38
NC_000002.11:g.47708001G>A , CM000664.1:g.47708001G>A	GRCh37
NC_000002.10:g.47561505G>A	NCBI36
NG_007110.2:g.82739G>A , LRG_218:g.82739G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2625G>A	ENSP00000495641.2:p.Leu875=
ENST00000233146.7:c.2625G>A MANE Select	ENSP00000233146.2:p.Leu875=
ENST00000543555.6:c.2427G>A	ENSP00000442697.1:p.Leu809=
ENST00000644092.1:c.*925G>A	ENSP00000496351.1:n.*925G>A
ENST00000644900.1:c.478G>A
ENST00000645339.1:c.2625G>A	ENSP00000496441.1:p.Leu875=
ENST00000645506.1:c.2625G>A	ENSP00000495455.1:p.Leu875=
ENST00000646415.1:c.2625G>A	ENSP00000495543.1:p.Leu875=
ENST00000233146.6:c.2625G>A	ENSP00000233146.2:p.Leu875=
ENST00000406134.5:c.2625G>A	ENSP00000384199.1:p.Leu875=
ENST00000461394.5:n.66G>A
ENST00000543555.5:c.2427G>A	ENSP00000442697.1:p.Leu809=
ENST00000610696.4:c.*1021G>A	ENSP00000483159.1:n.*1021G>A
ENST00000613514.4:c.*1165G>A	ENSP00000484137.1:n.*1165G>A
ENST00000617333.3:c.*1391G>A	ENSP00000482468.1:n.*1391G>A
ENST00000617938.4:c.*1597G>A	ENSP00000481158.1:n.*1597G>A
ENST00000621359.2:c.*191G>A	ENSP00000481416.1:n.*191G>A
NM_000251.2:c.2625G>A , LRG_218t1:c.2625G>A	NP_000242.1:p.Leu875=
NM_001258281.1:c.2427G>A	NP_001245210.1:p.Leu809=
XM_005264332.2:c.2625G>A	XP_005264389.2:p.Leu875=
XM_011532867.1:c.2625G>A	XP_011531169.1:p.Leu875=
XR_939685.1:n.2697G>A
XM_005264332.4:c.2625G>A	XP_005264389.2:p.Leu875=
XM_011532867.2:c.2625G>A	XP_011531169.1:p.Leu875=
XR_001738747.2:n.2687G>A
XR_939685.2:n.2687G>A
NM_000251.3:c.2625G>A MANE Select	NP_000242.1:p.Leu875=