Canonical Allele Identifier: CA2495872486

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475146_47475147delinsAG , CM000664.2:g.47475146_47475147delinsAG	GRCh38
NC_000002.11:g.47702285_47702286delinsAG , CM000664.1:g.47702285_47702286delinsAG	GRCh37
NC_000002.10:g.47555789_47555790delinsAG	NCBI36
NG_007110.2:g.77023_77024delinsAG , LRG_218:g.77023_77024delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1881_1882delinsAG	ENSP00000495641.2:p.Lys627=
ENST00000233146.7:c.1881_1882delinsAG MANE Select	ENSP00000233146.2:p.Lys627=
ENST00000543555.6:c.1683_1684delinsAG	ENSP00000442697.1:p.Lys561=
ENST00000644092.1:c.*181_*182delinsAG	ENSP00000496351.1:n.*181_*182delinsAG
ENST00000645339.1:c.1881_1882delinsAG	ENSP00000496441.1:p.Lys627=
ENST00000645506.1:c.1881_1882delinsAG	ENSP00000495455.1:p.Lys627=
ENST00000646415.1:c.1881_1882delinsAG	ENSP00000495543.1:p.Lys627=
ENST00000233146.6:c.1881_1882delinsAG	ENSP00000233146.2:p.Lys627=
ENST00000406134.5:c.1881_1882delinsAG	ENSP00000384199.1:p.Lys627=
ENST00000543555.5:c.1683_1684delinsAG	ENSP00000442697.1:p.Lys561=
ENST00000610696.4:c.*277_*278delinsAG	ENSP00000483159.1:n.*277_*278delinsAG
ENST00000613514.4:c.*421_*422delinsAG	ENSP00000484137.1:n.*421_*422delinsAG
ENST00000617333.3:c.*647_*648delinsAG	ENSP00000482468.1:n.*647_*648delinsAG
ENST00000617938.4:c.*853_*854delinsAG	ENSP00000481158.1:n.*853_*854delinsAG
ENST00000621359.2:c.1881_1882delinsAG	ENSP00000481416.1:p.Lys627=
NM_000251.2:c.1881_1882delinsAG , LRG_218t1:c.1881_1882delinsAG	NP_000242.1:p.Lys627=
NM_001258281.1:c.1683_1684delinsAG	NP_001245210.1:p.Lys561=
XM_005264332.2:c.1881_1882delinsAG	XP_005264389.2:p.Lys627=
XM_011532867.1:c.1881_1882delinsAG	XP_011531169.1:p.Lys627=
XR_939685.1:n.1953_1954delinsAG
XM_005264332.4:c.1881_1882delinsAG	XP_005264389.2:p.Lys627=
XM_011532867.2:c.1881_1882delinsAG	XP_011531169.1:p.Lys627=
XR_001738747.2:n.1943_1944delinsAG
XR_939685.2:n.1943_1944delinsAG
NM_000251.3:c.1881_1882delinsAG MANE Select	NP_000242.1:p.Lys627=