Canonical Allele Identifier: CA346731919

Gene: MSH2

Linked Data

• ClinVar Variation Id: 479786
• ClinVar RCV Id: RCV000572179 ; RCV000697646 ; RCV004000845
• dbSNP Id: rs1399941088
• gnomAD v4: 2-47482888-T-C
• MyVariant Identifiers: chr2:g.47710027T>C (hg19) ; chr2:g.47482888T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482888T>C , CM000664.2:g.47482888T>C	GRCh38
NC_000002.11:g.47710027T>C , CM000664.1:g.47710027T>C	GRCh37
NC_000002.10:g.47563531T>C	NCBI36
NG_007110.2:g.84765T>C , LRG_218:g.84765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2017T>C	ENSP00000495641.2:n.2634+2017T>C
ENST00000233146.7:c.2744T>C MANE Select	ENSP00000233146.2:p.Val915Ala
ENST00000543555.6:c.2546T>C	ENSP00000442697.1:p.Val849Ala
ENST00000644092.1:c.*934+2017T>C	ENSP00000496351.1:n.*934+2017T>C
ENST00000644900.1:c.487+2017T>C
ENST00000645339.1:c.2634+2017T>C	ENSP00000496441.1:n.2634+2017T>C
ENST00000645506.1:c.2634+2017T>C	ENSP00000495455.1:n.2634+2017T>C
ENST00000646415.1:c.2634+2017T>C	ENSP00000495543.1:n.2634+2017T>C
ENST00000233146.6:c.2744T>C	ENSP00000233146.2:p.Val915Ala
ENST00000406134.5:c.2634+2017T>C	ENSP00000384199.1:n.2634+2017T>C
ENST00000461394.5:n.75+2017T>C
ENST00000543555.5:c.2546T>C	ENSP00000442697.1:p.Val849Ala
ENST00000610696.4:c.*1140T>C	ENSP00000483159.1:n.*1140T>C
ENST00000613514.4:c.*1284T>C	ENSP00000484137.1:n.*1284T>C
ENST00000617333.3:c.*1510T>C	ENSP00000482468.1:n.*1510T>C
ENST00000617938.4:c.*1716T>C	ENSP00000481158.1:n.*1716T>C
ENST00000621359.2:c.*310T>C	ENSP00000481416.1:n.*310T>C
NM_000251.2:c.2744T>C , LRG_218t1:c.2744T>C	NP_000242.1:p.Val915Ala
NM_001258281.1:c.2546T>C	NP_001245210.1:p.Val849Ala
XM_005264332.2:c.2634+2017T>C	XP_005264389.2:n.2634+2017T>C
XM_011532867.1:c.2634+2017T>C	XP_011531169.1:n.2634+2017T>C
XR_939685.1:n.2706+2017T>C
XM_005264332.4:c.2634+2017T>C	XP_005264389.2:n.2634+2017T>C
XM_011532867.2:c.2634+2017T>C	XP_011531169.1:n.2634+2017T>C
XR_001738747.2:n.2696+2017T>C
XR_939685.2:n.2696+2017T>C
NM_000251.3:c.2744T>C MANE Select	NP_000242.1:p.Val915Ala