Canonical Allele Identifier: CA346728301

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1332225
• ClinVar RCV Id: RCV001805271 ; RCV002542394
• dbSNP Id: rs41295288
• gnomAD v4: 2-47475052-A-T
• MyVariant Identifiers: chr2:g.47702191A>T (hg19) ; chr2:g.47475052A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475052A>T , CM000664.2:g.47475052A>T	GRCh38
NC_000002.11:g.47702191A>T , CM000664.1:g.47702191A>T	GRCh37
NC_000002.10:g.47555695A>T	NCBI36
NG_007110.2:g.76929A>T , LRG_218:g.76929A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1787A>T	ENSP00000495641.2:p.Asn596Ile
ENST00000233146.7:c.1787A>T MANE Select	ENSP00000233146.2:p.Asn596Ile
ENST00000543555.6:c.1589A>T	ENSP00000442697.1:p.Asn530Ile
ENST00000644092.1:c.*87A>T	ENSP00000496351.1:n.*87A>T
ENST00000645339.1:c.1787A>T	ENSP00000496441.1:p.Asn596Ile
ENST00000645506.1:c.1787A>T	ENSP00000495455.1:p.Asn596Ile
ENST00000646415.1:c.1787A>T	ENSP00000495543.1:p.Asn596Ile
ENST00000233146.6:c.1787A>T	ENSP00000233146.2:p.Asn596Ile
ENST00000406134.5:c.1787A>T	ENSP00000384199.1:p.Asn596Ile
ENST00000543555.5:c.1589A>T	ENSP00000442697.1:p.Asn530Ile
ENST00000610696.4:c.*183A>T	ENSP00000483159.1:n.*183A>T
ENST00000613514.4:c.*327A>T	ENSP00000484137.1:n.*327A>T
ENST00000617333.3:c.*553A>T	ENSP00000482468.1:n.*553A>T
ENST00000617938.4:c.*759A>T	ENSP00000481158.1:n.*759A>T
ENST00000621359.2:c.1787A>T	ENSP00000481416.1:p.Asn596Ile
NM_000251.2:c.1787A>T , LRG_218t1:c.1787A>T	NP_000242.1:p.Asn596Ile
NM_001258281.1:c.1589A>T	NP_001245210.1:p.Asn530Ile
XM_005264332.2:c.1787A>T	XP_005264389.2:p.Asn596Ile
XM_011532867.1:c.1787A>T	XP_011531169.1:p.Asn596Ile
XR_939685.1:n.1859A>T
XM_005264332.4:c.1787A>T	XP_005264389.2:p.Asn596Ile
XM_011532867.2:c.1787A>T	XP_011531169.1:p.Asn596Ile
XR_001738747.2:n.1849A>T
XR_939685.2:n.1849A>T
NM_000251.3:c.1787A>T MANE Select	NP_000242.1:p.Asn596Ile