Canonical Allele Identifier: CA018846

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90721
• ClinVar RCV Id: RCV000076218 ; RCV000490916 ; RCV000812895 ; RCV003327366 ; RCV004019107
• dbSNP Id: rs267607972
• ExAC: 2:47693952 G / C
• gnomAD v2: 2-47693952-G-C
• gnomAD v4: 2-47466813-G-C
• MyVariant Identifiers: chr2:g.47693952G>C (hg19) ; chr2:g.47466813G>C (hg38)
• PubMed: PMID:12362047 ; PMID:16451135 ; PMID:25081409

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47466813G>C , CM000664.2:g.47466813G>C	GRCh38
NC_000002.11:g.47693952G>C , CM000664.1:g.47693952G>C	GRCh37
NC_000002.10:g.47547456G>C	NCBI36
NG_007110.2:g.68690G>C , LRG_218:g.68690G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1661+5G>C	ENSP00000495641.2:n.1661+5G>C
ENST00000233146.7:c.1661+5G>C MANE Select	ENSP00000233146.2:n.1661+5G>C
ENST00000543555.6:c.1463+5G>C	ENSP00000442697.1:n.1463+5G>C
ENST00000644092.1:c.1661+5G>C	ENSP00000496351.1:n.1661+5G>C
ENST00000645339.1:c.1661+5G>C	ENSP00000496441.1:n.1661+5G>C
ENST00000645506.1:c.1661+5G>C	ENSP00000495455.1:n.1661+5G>C
ENST00000646415.1:c.1661+5G>C	ENSP00000495543.1:n.1661+5G>C
ENST00000233146.6:c.1661+5G>C	ENSP00000233146.2:n.1661+5G>C
ENST00000406134.5:c.1661+5G>C	ENSP00000384199.1:n.1661+5G>C
ENST00000543555.5:c.1463+5G>C	ENSP00000442697.1:n.1463+5G>C
ENST00000610696.4:c.*57+5G>C	ENSP00000483159.1:n.*57+5G>C
ENST00000613514.4:c.*201+5G>C	ENSP00000484137.1:n.*201+5G>C
ENST00000617333.3:c.*427+5G>C	ENSP00000482468.1:n.*427+5G>C
ENST00000617938.4:c.*633+5G>C	ENSP00000481158.1:n.*633+5G>C
ENST00000621359.2:c.1661+5G>C	ENSP00000481416.1:n.1661+5G>C
NM_000251.2:c.1661+5G>C , LRG_218t1:c.1661+5G>C	NP_000242.1:n.1661+5G>C
NM_001258281.1:c.1463+5G>C	NP_001245210.1:n.1463+5G>C
XM_005264332.2:c.1661+5G>C	XP_005264389.2:n.1661+5G>C
XM_011532867.1:c.1661+5G>C	XP_011531169.1:n.1661+5G>C
XR_939685.1:n.1733+5G>C
XM_005264332.4:c.1661+5G>C	XP_005264389.2:n.1661+5G>C
XM_011532867.2:c.1661+5G>C	XP_011531169.1:n.1661+5G>C
XR_001738747.2:n.1723+5G>C
XR_939685.2:n.1723+5G>C
NM_000251.3:c.1661+5G>C MANE Select	NP_000242.1:n.1661+5G>C