Canonical Allele Identifier: CA019872

Gene: MSH2

Linked Data

• ClinVar Variation Id: 36572
• ClinVar RCV Id: RCV000030248 ; RCV000115515 ; RCV000202174 ; RCV000524372 ; RCV000576755 ; RCV000677886 ; RCV001250040 ; RCV004555850
• dbSNP Id: rs63749932
• ExAC: 2:47703538 C / T
• gnomAD v2: 2-47703538-C-T
• gnomAD v4: 2-47476399-C-T
• COSMIC: COSM27628
• MyVariant Identifiers: chr2:g.47703538C>T (hg19) ; chr2:g.47476399C>T (hg38)
• PubMed: PMID:20 ; PMID:75 ; PMID:9311737 ; PMID:9718327 ; PMID:11208710 ; PMID:11524701 ; PMID:11769729 ; PMID:11854906 ; PMID:12112654 ; PMID:12414824 ; PMID:12547705 ; PMID:12658575 ; PMID:15345113 ; PMID:15713769 ; PMID:15849733 ; PMID:15926618 ; PMID:16616355 ; PMID:17229076 ; PMID:17312306 ; PMID:18270343 ; PMID:18566915 ; PMID:19723918 ; PMID:20215533 ; PMID:20587412 ; PMID:21598002 ; PMID:23047549 ; PMID:24344984 ; PMID:25430799 ; PMID:25980754 ; PMID:27013479 ; PMID:27601186

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476399C>T , CM000664.2:g.47476399C>T	GRCh38
NC_000002.11:g.47703538C>T , CM000664.1:g.47703538C>T	GRCh37
NC_000002.10:g.47557042C>T	NCBI36
NG_007110.2:g.78276C>T , LRG_218:g.78276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2038C>T	ENSP00000495641.2:p.Arg680Ter
ENST00000233146.7:c.2038C>T MANE Select	ENSP00000233146.2:p.Arg680Ter
ENST00000543555.6:c.1840C>T	ENSP00000442697.1:p.Arg614Ter
ENST00000644092.1:c.*338C>T	ENSP00000496351.1:n.*338C>T
ENST00000645339.1:c.2038C>T	ENSP00000496441.1:p.Arg680Ter
ENST00000645506.1:c.2038C>T	ENSP00000495455.1:p.Arg680Ter
ENST00000646415.1:c.2038C>T	ENSP00000495543.1:p.Arg680Ter
ENST00000233146.6:c.2038C>T	ENSP00000233146.2:p.Arg680Ter
ENST00000406134.5:c.2038C>T	ENSP00000384199.1:p.Arg680Ter
ENST00000543555.5:c.1840C>T	ENSP00000442697.1:p.Arg614Ter
ENST00000610696.4:c.*434C>T	ENSP00000483159.1:n.*434C>T
ENST00000613514.4:c.*578C>T	ENSP00000484137.1:n.*578C>T
ENST00000617333.3:c.*804C>T	ENSP00000482468.1:n.*804C>T
ENST00000617938.4:c.*1010C>T	ENSP00000481158.1:n.*1010C>T
ENST00000621359.2:c.2038C>T	ENSP00000481416.1:p.Arg680Ter
NM_000251.2:c.2038C>T , LRG_218t1:c.2038C>T	NP_000242.1:p.Arg680Ter
NM_001258281.1:c.1840C>T	NP_001245210.1:p.Arg614Ter
XM_005264332.2:c.2038C>T	XP_005264389.2:p.Arg680Ter
XM_011532867.1:c.2038C>T	XP_011531169.1:p.Arg680Ter
XR_939685.1:n.2110C>T
XM_005264332.4:c.2038C>T	XP_005264389.2:p.Arg680Ter
XM_011532867.2:c.2038C>T	XP_011531169.1:p.Arg680Ter
XR_001738747.2:n.2100C>T
XR_939685.2:n.2100C>T
NM_000251.3:c.2038C>T MANE Select	NP_000242.1:p.Arg680Ter