Canonical Allele Identifier: CA346728341

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673297
• ClinVar RCV Id: RCV003455922
• dbSNP Id: rs2104338716
• MyVariant Identifiers: chr2:g.47702215C>A (hg19) ; chr2:g.47475076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475076C>A , CM000664.2:g.47475076C>A	GRCh38
NC_000002.11:g.47702215C>A , CM000664.1:g.47702215C>A	GRCh37
NC_000002.10:g.47555719C>A	NCBI36
NG_007110.2:g.76953C>A , LRG_218:g.76953C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1811C>A	ENSP00000495641.2:p.Ala604Asp
ENST00000233146.7:c.1811C>A MANE Select	ENSP00000233146.2:p.Ala604Asp
ENST00000543555.6:c.1613C>A	ENSP00000442697.1:p.Ala538Asp
ENST00000644092.1:c.*111C>A	ENSP00000496351.1:n.*111C>A
ENST00000645339.1:c.1811C>A	ENSP00000496441.1:p.Ala604Asp
ENST00000645506.1:c.1811C>A	ENSP00000495455.1:p.Ala604Asp
ENST00000646415.1:c.1811C>A	ENSP00000495543.1:p.Ala604Asp
ENST00000233146.6:c.1811C>A	ENSP00000233146.2:p.Ala604Asp
ENST00000406134.5:c.1811C>A	ENSP00000384199.1:p.Ala604Asp
ENST00000543555.5:c.1613C>A	ENSP00000442697.1:p.Ala538Asp
ENST00000610696.4:c.*207C>A	ENSP00000483159.1:n.*207C>A
ENST00000613514.4:c.*351C>A	ENSP00000484137.1:n.*351C>A
ENST00000617333.3:c.*577C>A	ENSP00000482468.1:n.*577C>A
ENST00000617938.4:c.*783C>A	ENSP00000481158.1:n.*783C>A
ENST00000621359.2:c.1811C>A	ENSP00000481416.1:p.Ala604Asp
NM_000251.2:c.1811C>A , LRG_218t1:c.1811C>A	NP_000242.1:p.Ala604Asp
NM_001258281.1:c.1613C>A	NP_001245210.1:p.Ala538Asp
XM_005264332.2:c.1811C>A	XP_005264389.2:p.Ala604Asp
XM_011532867.1:c.1811C>A	XP_011531169.1:p.Ala604Asp
XR_939685.1:n.1883C>A
XM_005264332.4:c.1811C>A	XP_005264389.2:p.Ala604Asp
XM_011532867.2:c.1811C>A	XP_011531169.1:p.Ala604Asp
XR_001738747.2:n.1873C>A
XR_939685.2:n.1873C>A
NM_000251.3:c.1811C>A MANE Select	NP_000242.1:p.Ala604Asp