Canonical Allele Identifier: CA017843

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90605
• ClinVar RCV Id: RCV000076101 ; RCV000566772 ; RCV001249916 ; RCV003162492 ; RCV003452820
• dbSNP Id: rs267607949
• gnomAD v4: 2-47445546-A-G
• MyVariant Identifiers: chr2:g.47672685A>G (hg19) ; chr2:g.47445546A>G (hg38)
• PubMed: PMID:17453009 ; PMID:20587412

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47445546A>G , CM000664.2:g.47445546A>G	GRCh38
NC_000002.11:g.47672685A>G , CM000664.1:g.47672685A>G	GRCh37
NC_000002.10:g.47526189A>G	NCBI36
NG_007110.2:g.47423A>G , LRG_218:g.47423A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1277-2A>G	ENSP00000495641.2:n.1277-2A>G
ENST00000233146.7:c.1277-2A>G MANE Select	ENSP00000233146.2:n.1277-2A>G
ENST00000543555.6:c.1079-2A>G	ENSP00000442697.1:n.1079-2A>G
ENST00000644092.1:c.1277-2A>G	ENSP00000496351.1:n.1277-2A>G
ENST00000645339.1:c.1277-2A>G	ENSP00000496441.1:n.1277-2A>G
ENST00000645506.1:c.1277-2A>G	ENSP00000495455.1:n.1277-2A>G
ENST00000646415.1:c.1277-2A>G	ENSP00000495543.1:n.1277-2A>G
ENST00000233146.6:c.1277-2A>G	ENSP00000233146.2:n.1277-2A>G
ENST00000406134.5:c.1277-2A>G	ENSP00000384199.1:n.1277-2A>G
ENST00000543555.5:c.1079-2A>G	ENSP00000442697.1:n.1079-2A>G
ENST00000610696.4:c.1277-2A>G	ENSP00000483159.1:n.1277-2A>G
ENST00000613514.4:c.1277-2A>G	ENSP00000484137.1:n.1277-2A>G
ENST00000617333.3:c.*43-2A>G	ENSP00000482468.1:n.*43-2A>G
ENST00000617938.4:c.*249-2A>G	ENSP00000481158.1:n.*249-2A>G
ENST00000621359.2:c.1277-2A>G	ENSP00000481416.1:n.1277-2A>G
NM_000251.2:c.1277-2A>G , LRG_218t1:c.1277-2A>G	NP_000242.1:n.1277-2A>G
NM_001258281.1:c.1079-2A>G	NP_001245210.1:n.1079-2A>G
XM_005264332.2:c.1277-2A>G	XP_005264389.2:n.1277-2A>G
XM_011532867.1:c.1277-2A>G	XP_011531169.1:n.1277-2A>G
XR_939685.1:n.1349-2A>G
XM_005264332.4:c.1277-2A>G	XP_005264389.2:n.1277-2A>G
XM_011532867.2:c.1277-2A>G	XP_011531169.1:n.1277-2A>G
XR_001738747.2:n.1339-2A>G
XR_939685.2:n.1339-2A>G
NM_000251.3:c.1277-2A>G MANE Select	NP_000242.1:n.1277-2A>G