Canonical Allele Identifier: CA1030269445

Gene: MSH2

Linked Data

• gnomAD v3: 2-47408401-G-GTTTT
• gnomAD v4: 2-47408401-G-GTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47408401_47408402insTTTT , CM000664.2:g.47408401_47408402insTTTT	GRCh38
NC_000002.11:g.47635540_47635541insTTTT , CM000664.1:g.47635540_47635541insTTTT	GRCh37
NC_000002.10:g.47489044_47489045insTTTT	NCBI36
NG_007110.2:g.10278_10279insTTTT , LRG_218:g.10278_10279insTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.212_213insTTTT	ENSP00000495641.2:p.Ala72PhefsTer11
ENST00000233146.7:c.212_213insTTTT MANE Select	ENSP00000233146.2:p.Ala72PhefsTer11
ENST00000543555.6:c.14_15insTTTT	ENSP00000442697.1:p.Ala6PhefsTer11
ENST00000644092.1:c.212_213insTTTT	ENSP00000496351.1:p.Ala72PhefsTer11
ENST00000645339.1:c.212_213insTTTT	ENSP00000496441.1:p.Ala72PhefsTer11
ENST00000645506.1:c.212_213insTTTT	ENSP00000495455.1:p.Ala72PhefsTer11
ENST00000646415.1:c.212_213insTTTT	ENSP00000495543.1:p.Ala72PhefsTer11
ENST00000233146.6:c.212_213insTTTT	ENSP00000233146.2:p.Ala72PhefsTer11
ENST00000406134.5:c.212_213insTTTT	ENSP00000384199.1:p.Ala72PhefsTer11
ENST00000454849.5:c.14_15insTTTT	ENSP00000411482.1:p.Ala6PhefsTer11
ENST00000543555.5:c.14_15insTTTT	ENSP00000442697.1:p.Ala6PhefsTer11
ENST00000610696.4:c.212_213insTTTT	ENSP00000483159.1:p.Ala72PhefsTer11
ENST00000613514.4:c.212_213insTTTT	ENSP00000484137.1:p.Ala72PhefsTer11
ENST00000617333.3:c.212_213insTTTT	ENSP00000482468.1:p.Ala72PhefsTer11
ENST00000617938.4:c.212_213insTTTT	ENSP00000481158.1:p.Ala72PhefsTer11
ENST00000621359.2:c.212_213insTTTT	ENSP00000481416.1:p.Ala72PhefsTer11
NM_000251.2:c.212_213insTTTT , LRG_218t1:c.212_213insTTTT	NP_000242.1:p.Ala72PhefsTer11
NM_001258281.1:c.14_15insTTTT	NP_001245210.1:p.Ala6PhefsTer11
XM_005264332.2:c.212_213insTTTT	XP_005264389.2:p.Ala72PhefsTer11
XM_011532867.1:c.212_213insTTTT	XP_011531169.1:p.Ala72PhefsTer11
XR_939685.1:n.284_285insTTTT
XM_005264332.4:c.212_213insTTTT	XP_005264389.2:p.Ala72PhefsTer11
XM_011532867.2:c.212_213insTTTT	XP_011531169.1:p.Ala72PhefsTer11
XR_001738747.2:n.274_275insTTTT
XR_939685.2:n.274_275insTTTT
NM_000251.3:c.212_213insTTTT MANE Select	NP_000242.1:p.Ala72PhefsTer11