Canonical Allele Identifier: CA346731837

Gene: MSH2

Linked Data

• dbSNP Id: rs2104461534
• gnomAD v4: 2-47482874-G-C
• MyVariant Identifiers: chr2:g.47710013G>C (hg19) ; chr2:g.47482874G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482874G>C , CM000664.2:g.47482874G>C	GRCh38
NC_000002.11:g.47710013G>C , CM000664.1:g.47710013G>C	GRCh37
NC_000002.10:g.47563517G>C	NCBI36
NG_007110.2:g.84751G>C , LRG_218:g.84751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2003G>C	ENSP00000495641.2:n.2634+2003G>C
ENST00000233146.7:c.2730G>C MANE Select	ENSP00000233146.2:p.Gln910His
ENST00000543555.6:c.2532G>C	ENSP00000442697.1:p.Gln844His
ENST00000644092.1:c.*934+2003G>C	ENSP00000496351.1:n.*934+2003G>C
ENST00000644900.1:c.487+2003G>C
ENST00000645339.1:c.2634+2003G>C	ENSP00000496441.1:n.2634+2003G>C
ENST00000645506.1:c.2634+2003G>C	ENSP00000495455.1:n.2634+2003G>C
ENST00000646415.1:c.2634+2003G>C	ENSP00000495543.1:n.2634+2003G>C
ENST00000233146.6:c.2730G>C	ENSP00000233146.2:p.Gln910His
ENST00000406134.5:c.2634+2003G>C	ENSP00000384199.1:n.2634+2003G>C
ENST00000461394.5:n.75+2003G>C
ENST00000543555.5:c.2532G>C	ENSP00000442697.1:p.Gln844His
ENST00000610696.4:c.*1126G>C	ENSP00000483159.1:n.*1126G>C
ENST00000613514.4:c.*1270G>C	ENSP00000484137.1:n.*1270G>C
ENST00000617333.3:c.*1496G>C	ENSP00000482468.1:n.*1496G>C
ENST00000617938.4:c.*1702G>C	ENSP00000481158.1:n.*1702G>C
ENST00000621359.2:c.*296G>C	ENSP00000481416.1:n.*296G>C
NM_000251.2:c.2730G>C , LRG_218t1:c.2730G>C	NP_000242.1:p.Gln910His
NM_001258281.1:c.2532G>C	NP_001245210.1:p.Gln844His
XM_005264332.2:c.2634+2003G>C	XP_005264389.2:n.2634+2003G>C
XM_011532867.1:c.2634+2003G>C	XP_011531169.1:n.2634+2003G>C
XR_939685.1:n.2706+2003G>C
XM_005264332.4:c.2634+2003G>C	XP_005264389.2:n.2634+2003G>C
XM_011532867.2:c.2634+2003G>C	XP_011531169.1:n.2634+2003G>C
XR_001738747.2:n.2696+2003G>C
XR_939685.2:n.2696+2003G>C
NM_000251.3:c.2730G>C MANE Select	NP_000242.1:p.Gln910His