Canonical Allele Identifier: CA346729102

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476384A>T , CM000664.2:g.47476384A>T	GRCh38
NC_000002.11:g.47703523A>T , CM000664.1:g.47703523A>T	GRCh37
NC_000002.10:g.47557027A>T	NCBI36
NG_007110.2:g.78261A>T , LRG_218:g.78261A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000251.3:c.2023A>T MANE Select	NP_000242.1:p.Lys675Ter
ENST00000233146.7:c.2023A>T MANE Select	ENSP00000233146.2:p.Lys675Ter
NM_000251.2:c.2023A>T , LRG_218t1:c.2023A>T	NP_000242.1:p.Lys675Ter
NM_001258281.1:c.1825A>T	NP_001245210.1:p.Lys609Ter
ENST00000233146.6:c.2023A>T	ENSP00000233146.2:p.Lys675Ter
ENST00000406134.5:c.2023A>T	ENSP00000384199.1:p.Lys675Ter
ENST00000543555.5:c.1825A>T	ENSP00000442697.1:p.Lys609Ter
ENST00000543555.6:c.1825A>T	ENSP00000442697.1:p.Lys609Ter
ENST00000610696.4:c.*419A>T	ENSP00000483159.1:n.*419A>T
ENST00000613514.4:c.*563A>T	ENSP00000484137.1:n.*563A>T
ENST00000617333.3:c.*789A>T	ENSP00000482468.1:n.*789A>T
ENST00000617938.4:c.*995A>T	ENSP00000481158.1:n.*995A>T
ENST00000621359.2:c.2023A>T	ENSP00000481416.1:p.Lys675Ter
ENST00000644092.1:c.*323A>T	ENSP00000496351.1:n.*323A>T
ENST00000644900.2:c.2023A>T	ENSP00000495641.2:p.Lys675Ter
ENST00000645339.1:c.2023A>T	ENSP00000496441.1:p.Lys675Ter
ENST00000645506.1:c.2023A>T	ENSP00000495455.1:p.Lys675Ter
ENST00000646415.1:c.2023A>T	ENSP00000495543.1:p.Lys675Ter
XM_005264332.2:c.2023A>T	XP_005264389.2:p.Lys675Ter
XM_005264332.4:c.2023A>T	XP_005264389.2:p.Lys675Ter
XM_011532867.1:c.2023A>T	XP_011531169.1:p.Lys675Ter
XM_011532867.2:c.2023A>T	XP_011531169.1:p.Lys675Ter
XR_001738747.2:n.2085A>T
XR_939685.1:n.2095A>T
XR_939685.2:n.2085A>T