Canonical Allele Identifier: CA10577989

Gene: MSH2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475211C>T , CM000664.2:g.47475211C>T	GRCh38
NC_000002.11:g.47702350C>T , CM000664.1:g.47702350C>T	GRCh37
NC_000002.10:g.47555854C>T	NCBI36
NG_007110.2:g.77088C>T , LRG_218:g.77088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1946C>T	ENSP00000495641.2:p.Ala649Val
ENST00000233146.7:c.1946C>T MANE Select	ENSP00000233146.2:p.Ala649Val
ENST00000543555.6:c.1748C>T	ENSP00000442697.1:p.Ala583Val
ENST00000644092.1:c.*246C>T	ENSP00000496351.1:n.*246C>T
ENST00000645339.1:c.1946C>T	ENSP00000496441.1:p.Ala649Val
ENST00000645506.1:c.1946C>T	ENSP00000495455.1:p.Ala649Val
ENST00000646415.1:c.1946C>T	ENSP00000495543.1:p.Ala649Val
ENST00000233146.6:c.1946C>T	ENSP00000233146.2:p.Ala649Val
ENST00000406134.5:c.1946C>T	ENSP00000384199.1:p.Ala649Val
ENST00000543555.5:c.1748C>T	ENSP00000442697.1:p.Ala583Val
ENST00000610696.4:c.*342C>T	ENSP00000483159.1:n.*342C>T
ENST00000613514.4:c.*486C>T	ENSP00000484137.1:n.*486C>T
ENST00000617333.3:c.*712C>T	ENSP00000482468.1:n.*712C>T
ENST00000617938.4:c.*918C>T	ENSP00000481158.1:n.*918C>T
ENST00000621359.2:c.1946C>T	ENSP00000481416.1:p.Ala649Val
NM_000251.2:c.1946C>T , LRG_218t1:c.1946C>T	NP_000242.1:p.Ala649Val
NM_001258281.1:c.1748C>T	NP_001245210.1:p.Ala583Val
XM_005264332.2:c.1946C>T	XP_005264389.2:p.Ala649Val
XM_011532867.1:c.1946C>T	XP_011531169.1:p.Ala649Val
XR_939685.1:n.2018C>T
XM_005264332.4:c.1946C>T	XP_005264389.2:p.Ala649Val
XM_011532867.2:c.1946C>T	XP_011531169.1:p.Ala649Val
XR_001738747.2:n.2008C>T
XR_939685.2:n.2008C>T
NM_000251.3:c.1946C>T MANE Select	NP_000242.1:p.Ala649Val