Canonical Allele Identifier: CA2597416863

Gene: MSH2

Linked Data

• gnomAD v3: 2-47475340-A-ATTTTTTTT
• gnomAD v4: 2-47475340-A-ATTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475340_47475341insTTTTTTTT , CM000664.2:g.47475340_47475341insTTTTTTTT	GRCh38
NC_000002.11:g.47702479_47702480insTTTTTTTT , CM000664.1:g.47702479_47702480insTTTTTTTT	GRCh37
NC_000002.10:g.47555983_47555984insTTTTTTTT	NCBI36
NG_007110.2:g.77217_77218insTTTTTTTT , LRG_218:g.77217_77218insTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2005+70_2005+71insTTTTTTTT	ENSP00000495641.2:n.2005+70_2005+71insTTTTTTTT
ENST00000233146.7:c.2005+70_2005+71insTTTTTTTT MANE Select	ENSP00000233146.2:n.2005+70_2005+71insTTTTTTTT
ENST00000543555.6:c.1807+70_1807+71insTTTTTTTT	ENSP00000442697.1:n.1807+70_1807+71insTTTTTTTT
ENST00000644092.1:c.*305+70_*305+71insTTTTTTTT	ENSP00000496351.1:n.*305+70_*305+71insTTTTTTTT
ENST00000645339.1:c.2005+70_2005+71insTTTTTTTT	ENSP00000496441.1:n.2005+70_2005+71insTTTTTTTT
ENST00000645506.1:c.2005+70_2005+71insTTTTTTTT	ENSP00000495455.1:n.2005+70_2005+71insTTTTTTTT
ENST00000646415.1:c.2005+70_2005+71insTTTTTTTT	ENSP00000495543.1:n.2005+70_2005+71insTTTTTTTT
ENST00000233146.6:c.2005+70_2005+71insTTTTTTTT	ENSP00000233146.2:n.2005+70_2005+71insTTTTTTTT
ENST00000406134.5:c.2005+70_2005+71insTTTTTTTT	ENSP00000384199.1:n.2005+70_2005+71insTTTTTTTT
ENST00000543555.5:c.1807+70_1807+71insTTTTTTTT	ENSP00000442697.1:n.1807+70_1807+71insTTTTTTTT
ENST00000610696.4:c.*401+70_*401+71insTTTTTTTT	ENSP00000483159.1:n.*401+70_*401+71insTTTTTTTT
ENST00000613514.4:c.*545+70_*545+71insTTTTTTTT	ENSP00000484137.1:n.*545+70_*545+71insTTTTTTTT
ENST00000617333.3:c.*771+70_*771+71insTTTTTTTT	ENSP00000482468.1:n.*771+70_*771+71insTTTTTTTT
ENST00000617938.4:c.*977+70_*977+71insTTTTTTTT	ENSP00000481158.1:n.*977+70_*977+71insTTTTTTTT
ENST00000621359.2:c.2005+70_2005+71insTTTTTTTT	ENSP00000481416.1:n.2005+70_2005+71insTTTTTTTT
NM_000251.2:c.2005+70_2005+71insTTTTTTTT , LRG_218t1:c.2005+70_2005+71insTTTTTTTT	NP_000242.1:n.2005+70_2005+71insTTTTTTTT
NM_001258281.1:c.1807+70_1807+71insTTTTTTTT	NP_001245210.1:n.1807+70_1807+71insTTTTTTTT
XM_005264332.2:c.2005+70_2005+71insTTTTTTTT	XP_005264389.2:n.2005+70_2005+71insTTTTTTTT
XM_011532867.1:c.2005+70_2005+71insTTTTTTTT	XP_011531169.1:n.2005+70_2005+71insTTTTTTTT
XR_939685.1:n.2077+70_2077+71insTTTTTTTT
XM_005264332.4:c.2005+70_2005+71insTTTTTTTT	XP_005264389.2:n.2005+70_2005+71insTTTTTTTT
XM_011532867.2:c.2005+70_2005+71insTTTTTTTT	XP_011531169.1:n.2005+70_2005+71insTTTTTTTT
XR_001738747.2:n.2067+70_2067+71insTTTTTTTT
XR_939685.2:n.2067+70_2067+71insTTTTTTTT
NM_000251.3:c.2005+70_2005+71insTTTTTTTT MANE Select	NP_000242.1:n.2005+70_2005+71insTTTTTTTT