Canonical Allele Identifier: CA018661

Gene: MSH2

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47466725del , CM000664.2:g.47466725del	GRCh38
NC_000002.11:g.47693864del , CM000664.1:g.47693864del	GRCh37
NC_000002.10:g.47547368del	NCBI36
NG_007110.2:g.68602del , LRG_218:g.68602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1578del	ENSP00000495641.2:p.Cys527ValfsTer16
ENST00000233146.7:c.1578del MANE Select	ENSP00000233146.2:p.Cys527ValfsTer16
ENST00000543555.6:c.1380del	ENSP00000442697.1:p.Cys461ValfsTer16
ENST00000644092.1:c.1578del	ENSP00000496351.1:p.Cys527ValfsTer16
ENST00000645339.1:c.1578del	ENSP00000496441.1:p.Cys527ValfsTer16
ENST00000645506.1:c.1578del	ENSP00000495455.1:p.Cys527ValfsTer16
ENST00000646415.1:c.1578del	ENSP00000495543.1:p.Cys527ValfsTer16
ENST00000233146.6:c.1578del	ENSP00000233146.2:p.Cys527ValfsTer16
ENST00000406134.5:c.1578del	ENSP00000384199.1:p.Cys527ValfsTer16
ENST00000543555.5:c.1380del	ENSP00000442697.1:p.Cys461ValfsTer16
ENST00000610696.4:c.1578del	ENSP00000483159.1:p.Cys527ValfsTer?
ENST00000613514.4:c.*118del	ENSP00000484137.1:n.*118del
ENST00000617333.3:c.*344del	ENSP00000482468.1:n.*344del
ENST00000617938.4:c.*550del	ENSP00000481158.1:n.*550del
ENST00000621359.2:c.1578del	ENSP00000481416.1:p.Cys527ValfsTer16
NM_000251.2:c.1578del , LRG_218t1:c.1578del	NP_000242.1:p.Cys527ValfsTer16
NM_001258281.1:c.1380del	NP_001245210.1:p.Cys461ValfsTer16
XM_005264332.2:c.1578del	XP_005264389.2:p.Cys527ValfsTer16
XM_011532867.1:c.1578del	XP_011531169.1:p.Cys527ValfsTer16
XR_939685.1:n.1650del
XM_005264332.4:c.1578del	XP_005264389.2:p.Cys527ValfsTer16
XM_011532867.2:c.1578del	XP_011531169.1:p.Cys527ValfsTer16
XR_001738747.2:n.1640del
XR_939685.2:n.1640del
NM_000251.3:c.1578del MANE Select	NP_000242.1:p.Cys527ValfsTer16