Canonical Allele Identifier: CA10578013

Gene: MSH2

Linked Data

• ClinVar Variation Id: 233504
• ClinVar RCV Id: RCV000221700 ; RCV000524618
• dbSNP Id: rs876660450
• gnomAD v4: 2-47482785-G-C
• MyVariant Identifiers: chr2:g.47709924G>C (hg19) ; chr2:g.47482785G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482785G>C , CM000664.2:g.47482785G>C	GRCh38
NC_000002.11:g.47709924G>C , CM000664.1:g.47709924G>C	GRCh37
NC_000002.10:g.47563428G>C	NCBI36
NG_007110.2:g.84662G>C , LRG_218:g.84662G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1914G>C	ENSP00000495641.2:n.2634+1914G>C
ENST00000233146.7:c.2641G>C MANE Select	ENSP00000233146.2:p.Glu881Gln
ENST00000543555.6:c.2443G>C	ENSP00000442697.1:p.Glu815Gln
ENST00000644092.1:c.*934+1914G>C	ENSP00000496351.1:n.*934+1914G>C
ENST00000644900.1:c.487+1914G>C
ENST00000645339.1:c.2634+1914G>C	ENSP00000496441.1:n.2634+1914G>C
ENST00000645506.1:c.2634+1914G>C	ENSP00000495455.1:n.2634+1914G>C
ENST00000646415.1:c.2634+1914G>C	ENSP00000495543.1:n.2634+1914G>C
ENST00000233146.6:c.2641G>C	ENSP00000233146.2:p.Glu881Gln
ENST00000406134.5:c.2634+1914G>C	ENSP00000384199.1:n.2634+1914G>C
ENST00000461394.5:n.75+1914G>C
ENST00000543555.5:c.2443G>C	ENSP00000442697.1:p.Glu815Gln
ENST00000610696.4:c.*1037G>C	ENSP00000483159.1:n.*1037G>C
ENST00000613514.4:c.*1181G>C	ENSP00000484137.1:n.*1181G>C
ENST00000617333.3:c.*1407G>C	ENSP00000482468.1:n.*1407G>C
ENST00000617938.4:c.*1613G>C	ENSP00000481158.1:n.*1613G>C
ENST00000621359.2:c.*207G>C	ENSP00000481416.1:n.*207G>C
NM_000251.2:c.2641G>C , LRG_218t1:c.2641G>C	NP_000242.1:p.Glu881Gln
NM_001258281.1:c.2443G>C	NP_001245210.1:p.Glu815Gln
XM_005264332.2:c.2634+1914G>C	XP_005264389.2:n.2634+1914G>C
XM_011532867.1:c.2634+1914G>C	XP_011531169.1:n.2634+1914G>C
XR_939685.1:n.2706+1914G>C
XM_005264332.4:c.2634+1914G>C	XP_005264389.2:n.2634+1914G>C
XM_011532867.2:c.2634+1914G>C	XP_011531169.1:n.2634+1914G>C
XR_001738747.2:n.2696+1914G>C
XR_939685.2:n.2696+1914G>C
NM_000251.3:c.2641G>C MANE Select	NP_000242.1:p.Glu881Gln