Canonical Allele Identifier: CA018761

Gene: MSH2

Linked Data

• ClinVar Variation Id: 134842
• ClinVar RCV Id: RCV000121560 ; RCV000472209 ; RCV000569681 ; RCV001588967 ; RCV003460853
• dbSNP Id: rs587778524
• ExAC: 2:47693917 T / C
• gnomAD v2: 2-47693917-T-C
• gnomAD v4: 2-47466778-T-C
• MyVariant Identifiers: chr2:g.47693917T>C (hg19) ; chr2:g.47466778T>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47466778T>C , CM000664.2:g.47466778T>C	GRCh38
NC_000002.11:g.47693917T>C , CM000664.1:g.47693917T>C	GRCh37
NC_000002.10:g.47547421T>C	NCBI36
NG_007110.2:g.68655T>C , LRG_218:g.68655T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1631T>C	ENSP00000495641.2:p.Ile544Thr
ENST00000233146.7:c.1631T>C MANE Select	ENSP00000233146.2:p.Ile544Thr
ENST00000543555.6:c.1433T>C	ENSP00000442697.1:p.Ile478Thr
ENST00000644092.1:c.1631T>C	ENSP00000496351.1:p.Ile544Thr
ENST00000645339.1:c.1631T>C	ENSP00000496441.1:p.Ile544Thr
ENST00000645506.1:c.1631T>C	ENSP00000495455.1:p.Ile544Thr
ENST00000646415.1:c.1631T>C	ENSP00000495543.1:p.Ile544Thr
ENST00000233146.6:c.1631T>C	ENSP00000233146.2:p.Ile544Thr
ENST00000406134.5:c.1631T>C	ENSP00000384199.1:p.Ile544Thr
ENST00000543555.5:c.1433T>C	ENSP00000442697.1:p.Ile478Thr
ENST00000610696.4:c.*27T>C	ENSP00000483159.1:n.*27T>C
ENST00000613514.4:c.*171T>C	ENSP00000484137.1:n.*171T>C
ENST00000617333.3:c.*397T>C	ENSP00000482468.1:n.*397T>C
ENST00000617938.4:c.*603T>C	ENSP00000481158.1:n.*603T>C
ENST00000621359.2:c.1631T>C	ENSP00000481416.1:p.Ile544Thr
NM_000251.2:c.1631T>C , LRG_218t1:c.1631T>C	NP_000242.1:p.Ile544Thr
NM_001258281.1:c.1433T>C	NP_001245210.1:p.Ile478Thr
XM_005264332.2:c.1631T>C	XP_005264389.2:p.Ile544Thr
XM_011532867.1:c.1631T>C	XP_011531169.1:p.Ile544Thr
XR_939685.1:n.1703T>C
XM_005264332.4:c.1631T>C	XP_005264389.2:p.Ile544Thr
XM_011532867.2:c.1631T>C	XP_011531169.1:p.Ile544Thr
XR_001738747.2:n.1693T>C
XR_939685.2:n.1693T>C
NM_000251.3:c.1631T>C MANE Select	NP_000242.1:p.Ile544Thr