Canonical Allele Identifier: CA1030267583

Gene: MSH2

Linked Data

• dbSNP Id: rs1667052305
• gnomAD v3: 2-47470462-AGCTGGGATTACAAGCACGCGCCACCAT-A
• gnomAD v4: 2-47470462-AGCTGGGATTACAAGCACGCGCCACCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470469_47470495del , CM000664.2:g.47470469_47470495del	GRCh38
NC_000002.11:g.47697608_47697634del , CM000664.1:g.47697608_47697634del	GRCh37
NC_000002.10:g.47551112_47551138del	NCBI36
NG_007110.2:g.72346_72372del , LRG_218:g.72346_72372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1662-496_1662-470del	ENSP00000495641.2:n.1662-496_1662-470del
ENST00000233146.7:c.1662-496_1662-470del MANE Select	ENSP00000233146.2:n.1662-496_1662-470del
ENST00000543555.6:c.1464-496_1464-470del	ENSP00000442697.1:n.1464-496_1464-470del
ENST00000644092.1:c.1662-519_1662-493del	ENSP00000496351.1:n.1662-519_1662-493del
ENST00000645339.1:c.1662-496_1662-470del	ENSP00000496441.1:n.1662-496_1662-470del
ENST00000645506.1:c.1662-496_1662-470del	ENSP00000495455.1:n.1662-496_1662-470del
ENST00000646415.1:c.1662-496_1662-470del	ENSP00000495543.1:n.1662-496_1662-470del
ENST00000233146.6:c.1662-496_1662-470del	ENSP00000233146.2:n.1662-496_1662-470del
ENST00000406134.5:c.1662-496_1662-470del	ENSP00000384199.1:n.1662-496_1662-470del
ENST00000543555.5:c.1464-496_1464-470del	ENSP00000442697.1:n.1464-496_1464-470del
ENST00000610696.4:c.*58-496_*58-470del	ENSP00000483159.1:n.*58-496_*58-470del
ENST00000613514.4:c.*202-496_*202-470del	ENSP00000484137.1:n.*202-496_*202-470del
ENST00000617333.3:c.*428-496_*428-470del	ENSP00000482468.1:n.*428-496_*428-470del
ENST00000617938.4:c.*634-496_*634-470del	ENSP00000481158.1:n.*634-496_*634-470del
ENST00000621359.2:c.1662-496_1662-470del	ENSP00000481416.1:n.1662-496_1662-470del
NM_000251.2:c.1662-496_1662-470del , LRG_218t1:c.1662-496_1662-470del	NP_000242.1:n.1662-496_1662-470del
NM_001258281.1:c.1464-496_1464-470del	NP_001245210.1:n.1464-496_1464-470del
XM_005264332.2:c.1662-496_1662-470del	XP_005264389.2:n.1662-496_1662-470del
XM_011532867.1:c.1662-496_1662-470del	XP_011531169.1:n.1662-496_1662-470del
XR_939685.1:n.1734-496_1734-470del
XM_005264332.4:c.1662-496_1662-470del	XP_005264389.2:n.1662-496_1662-470del
XM_011532867.2:c.1662-496_1662-470del	XP_011531169.1:n.1662-496_1662-470del
XR_001738747.2:n.1724-496_1724-470del
XR_939685.2:n.1724-496_1724-470del
NM_000251.3:c.1662-496_1662-470del MANE Select	NP_000242.1:n.1662-496_1662-470del