Canonical Allele Identifier: CA020709

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90998
• ClinVar RCV Id: RCV000236323 ; RCV000410329 ; RCV000491427 ; RCV000552050 ; RCV002247471 ; RCV003153357
• dbSNP Id: rs267608015
• ExAC: 2:47707927 C / A
• gnomAD v2: 2-47707927-C-A
• gnomAD v4: 2-47480788-C-A
• MyVariant Identifiers: chr2:g.47707927C>A (hg19) ; chr2:g.47480788C>A (hg38)
• PubMed: PMID:18726168

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480788C>A , CM000664.2:g.47480788C>A	GRCh38
NC_000002.11:g.47707927C>A , CM000664.1:g.47707927C>A	GRCh37
NC_000002.10:g.47561431C>A	NCBI36
NG_007110.2:g.82665C>A , LRG_218:g.82665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2551C>A	ENSP00000495641.2:p.Leu851Ile
ENST00000233146.7:c.2551C>A MANE Select	ENSP00000233146.2:p.Leu851Ile
ENST00000543555.6:c.2353C>A	ENSP00000442697.1:p.Leu785Ile
ENST00000644092.1:c.*851C>A	ENSP00000496351.1:n.*851C>A
ENST00000644900.1:c.404C>A
ENST00000645339.1:c.2551C>A	ENSP00000496441.1:p.Leu851Ile
ENST00000645506.1:c.2551C>A	ENSP00000495455.1:p.Leu851Ile
ENST00000646415.1:c.2551C>A	ENSP00000495543.1:p.Leu851Ile
ENST00000233146.6:c.2551C>A	ENSP00000233146.2:p.Leu851Ile
ENST00000406134.5:c.2551C>A	ENSP00000384199.1:p.Leu851Ile
ENST00000543555.5:c.2353C>A	ENSP00000442697.1:p.Leu785Ile
ENST00000610696.4:c.*947C>A	ENSP00000483159.1:n.*947C>A
ENST00000613514.4:c.*1091C>A	ENSP00000484137.1:n.*1091C>A
ENST00000617333.3:c.*1317C>A	ENSP00000482468.1:n.*1317C>A
ENST00000617938.4:c.*1523C>A	ENSP00000481158.1:n.*1523C>A
ENST00000621359.2:c.*117C>A	ENSP00000481416.1:n.*117C>A
NM_000251.2:c.2551C>A , LRG_218t1:c.2551C>A	NP_000242.1:p.Leu851Ile
NM_001258281.1:c.2353C>A	NP_001245210.1:p.Leu785Ile
XM_005264332.2:c.2551C>A	XP_005264389.2:p.Leu851Ile
XM_011532867.1:c.2551C>A	XP_011531169.1:p.Leu851Ile
XR_939685.1:n.2623C>A
XM_005264332.4:c.2551C>A	XP_005264389.2:p.Leu851Ile
XM_011532867.2:c.2551C>A	XP_011531169.1:p.Leu851Ile
XR_001738747.2:n.2613C>A
XR_939685.2:n.2613C>A
NM_000251.3:c.2551C>A MANE Select	NP_000242.1:p.Leu851Ile