Canonical Allele Identifier: CA346730115

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478444C>A , CM000664.2:g.47478444C>A	GRCh38
NC_000002.11:g.47705583C>A , CM000664.1:g.47705583C>A	GRCh37
NC_000002.10:g.47559087C>A	NCBI36
NG_007110.2:g.80321C>A , LRG_218:g.80321C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000251.3:c.2383C>A MANE Select	NP_000242.1:p.Pro795Thr
ENST00000233146.7:c.2383C>A MANE Select	ENSP00000233146.2:p.Pro795Thr
NM_000251.2:c.2383C>A , LRG_218t1:c.2383C>A	NP_000242.1:p.Pro795Thr
NM_001258281.1:c.2185C>A	NP_001245210.1:p.Pro729Thr
ENST00000233146.6:c.2383C>A	ENSP00000233146.2:p.Pro795Thr
ENST00000406134.5:c.2383C>A	ENSP00000384199.1:p.Pro795Thr
ENST00000543555.5:c.2185C>A	ENSP00000442697.1:p.Pro729Thr
ENST00000543555.6:c.2185C>A	ENSP00000442697.1:p.Pro729Thr
ENST00000610696.4:c.*779C>A	ENSP00000483159.1:n.*779C>A
ENST00000613514.4:c.*923C>A	ENSP00000484137.1:n.*923C>A
ENST00000617333.3:c.*1149C>A	ENSP00000482468.1:n.*1149C>A
ENST00000617938.4:c.*1355C>A	ENSP00000481158.1:n.*1355C>A
ENST00000621359.2:c.2382C>A	ENSP00000481416.1:p.Tyr794Ter
ENST00000644092.1:c.*683C>A	ENSP00000496351.1:n.*683C>A
ENST00000644900.1:c.236C>A
ENST00000644900.2:c.2383C>A	ENSP00000495641.2:p.Pro795Thr
ENST00000645339.1:c.2383C>A	ENSP00000496441.1:p.Pro795Thr
ENST00000645506.1:c.2383C>A	ENSP00000495455.1:p.Pro795Thr
ENST00000646415.1:c.2383C>A	ENSP00000495543.1:p.Pro795Thr
XM_005264332.2:c.2383C>A	XP_005264389.2:p.Pro795Thr
XM_005264332.4:c.2383C>A	XP_005264389.2:p.Pro795Thr
XM_011532867.1:c.2383C>A	XP_011531169.1:p.Pro795Thr
XM_011532867.2:c.2383C>A	XP_011531169.1:p.Pro795Thr
XR_001738747.2:n.2445C>A
XR_939685.1:n.2455C>A
XR_939685.2:n.2445C>A