Canonical Allele Identifier: CA346730070

Gene: MSH2

Linked Data

• dbSNP Id: rs2104406283
• MyVariant Identifiers: chr2:g.47705573C>G (hg19) ; chr2:g.47478434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478434C>G , CM000664.2:g.47478434C>G	GRCh38
NC_000002.11:g.47705573C>G , CM000664.1:g.47705573C>G	GRCh37
NC_000002.10:g.47559077C>G	NCBI36
NG_007110.2:g.80311C>G , LRG_218:g.80311C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2373C>G	ENSP00000495641.2:p.Ala791=
ENST00000233146.7:c.2373C>G MANE Select	ENSP00000233146.2:p.Ala791=
ENST00000543555.6:c.2175C>G	ENSP00000442697.1:p.Ala725=
ENST00000644092.1:c.*673C>G	ENSP00000496351.1:n.*673C>G
ENST00000644900.1:c.226C>G
ENST00000645339.1:c.2373C>G	ENSP00000496441.1:p.Ala791=
ENST00000645506.1:c.2373C>G	ENSP00000495455.1:p.Ala791=
ENST00000646415.1:c.2373C>G	ENSP00000495543.1:p.Ala791=
ENST00000233146.6:c.2373C>G	ENSP00000233146.2:p.Ala791=
ENST00000406134.5:c.2373C>G	ENSP00000384199.1:p.Ala791=
ENST00000543555.5:c.2175C>G	ENSP00000442697.1:p.Ala725=
ENST00000610696.4:c.*769C>G	ENSP00000483159.1:n.*769C>G
ENST00000613514.4:c.*913C>G	ENSP00000484137.1:n.*913C>G
ENST00000617333.3:c.*1139C>G	ENSP00000482468.1:n.*1139C>G
ENST00000617938.4:c.*1345C>G	ENSP00000481158.1:n.*1345C>G
ENST00000621359.2:c.2372C>G	ENSP00000481416.1:p.Pro791Arg
NM_000251.2:c.2373C>G , LRG_218t1:c.2373C>G	NP_000242.1:p.Ala791=
NM_001258281.1:c.2175C>G	NP_001245210.1:p.Ala725=
XM_005264332.2:c.2373C>G	XP_005264389.2:p.Ala791=
XM_011532867.1:c.2373C>G	XP_011531169.1:p.Ala791=
XR_939685.1:n.2445C>G
XM_005264332.4:c.2373C>G	XP_005264389.2:p.Ala791=
XM_011532867.2:c.2373C>G	XP_011531169.1:p.Ala791=
XR_001738747.2:n.2435C>G
XR_939685.2:n.2435C>G
NM_000251.3:c.2373C>G MANE Select	NP_000242.1:p.Ala791=