Canonical Allele Identifier: CA1030260094

Gene: MSH2

Linked Data

• gnomAD v3: 2-47412156-GTCTC-G
• gnomAD v4: 2-47412156-GTCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412157_47412160del , CM000664.2:g.47412157_47412160del	GRCh38
NC_000002.11:g.47639296_47639299del , CM000664.1:g.47639296_47639299del	GRCh37
NC_000002.10:g.47492800_47492803del	NCBI36
NG_007110.2:g.14034_14037del , LRG_218:g.14034_14037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.646-257_646-254del	ENSP00000495641.2:n.646-257_646-254del
ENST00000233146.7:c.646-257_646-254del MANE Select	ENSP00000233146.2:n.646-257_646-254del
ENST00000543555.6:c.448-257_448-254del	ENSP00000442697.1:n.448-257_448-254del
ENST00000644092.1:c.646-257_646-254del	ENSP00000496351.1:n.646-257_646-254del
ENST00000645339.1:c.646-257_646-254del	ENSP00000496441.1:n.646-257_646-254del
ENST00000645506.1:c.646-257_646-254del	ENSP00000495455.1:n.646-257_646-254del
ENST00000646415.1:c.646-257_646-254del	ENSP00000495543.1:n.646-257_646-254del
ENST00000233146.6:c.646-257_646-254del	ENSP00000233146.2:n.646-257_646-254del
ENST00000406134.5:c.646-257_646-254del	ENSP00000384199.1:n.646-257_646-254del
ENST00000543555.5:c.448-257_448-254del	ENSP00000442697.1:n.448-257_448-254del
ENST00000610696.4:c.646-257_646-254del	ENSP00000483159.1:n.646-257_646-254del
ENST00000613514.4:c.646-257_646-254del	ENSP00000484137.1:n.646-257_646-254del
ENST00000617333.3:c.646-257_646-254del	ENSP00000482468.1:n.646-257_646-254del
ENST00000617938.4:c.646-257_646-254del	ENSP00000481158.1:n.646-257_646-254del
ENST00000621359.2:c.646-257_646-254del	ENSP00000481416.1:n.646-257_646-254del
NM_000251.2:c.646-257_646-254del , LRG_218t1:c.646-257_646-254del	NP_000242.1:n.646-257_646-254del
NM_001258281.1:c.448-257_448-254del	NP_001245210.1:n.448-257_448-254del
XM_005264332.2:c.646-257_646-254del	XP_005264389.2:n.646-257_646-254del
XM_011532867.1:c.646-257_646-254del	XP_011531169.1:n.646-257_646-254del
XR_939685.1:n.718-257_718-254del
XM_005264332.4:c.646-257_646-254del	XP_005264389.2:n.646-257_646-254del
XM_011532867.2:c.646-257_646-254del	XP_011531169.1:n.646-257_646-254del
XR_001738747.2:n.708-257_708-254del
XR_939685.2:n.708-257_708-254del
NM_000251.3:c.646-257_646-254del MANE Select	NP_000242.1:n.646-257_646-254del