Canonical Allele Identifier: CA532705020

Gene: MSH2

Linked Data

• dbSNP Id: rs1248134450
• gnomAD v2: 2-47641581-AAAAAAG-A
• gnomAD v4: 2-47414442-AAAAAAG-A
• MyVariant Identifiers: chr2:g.47641582_47641587del (hg19) ; chr2:g.47414443_47414448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414443_47414448del , CM000664.2:g.47414443_47414448del	GRCh38
NC_000002.11:g.47641582_47641587del , CM000664.1:g.47641582_47641587del	GRCh37
NC_000002.10:g.47495086_47495091del	NCBI36
NG_007110.2:g.16320_16325del , LRG_218:g.16320_16325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.942+25_942+30del	ENSP00000495641.2:n.942+25_942+30del
ENST00000233146.7:c.942+25_942+30del MANE Select	ENSP00000233146.2:n.942+25_942+30del
ENST00000543555.6:c.744+25_744+30del	ENSP00000442697.1:n.744+25_744+30del
ENST00000644092.1:c.942+25_942+30del	ENSP00000496351.1:n.942+25_942+30del
ENST00000645339.1:c.942+25_942+30del	ENSP00000496441.1:n.942+25_942+30del
ENST00000645506.1:c.942+25_942+30del	ENSP00000495455.1:n.942+25_942+30del
ENST00000646415.1:c.942+25_942+30del	ENSP00000495543.1:n.942+25_942+30del
ENST00000233146.6:c.942+25_942+30del	ENSP00000233146.2:n.942+25_942+30del
ENST00000406134.5:c.942+25_942+30del	ENSP00000384199.1:n.942+25_942+30del
ENST00000543555.5:c.744+25_744+30del	ENSP00000442697.1:n.744+25_744+30del
ENST00000610696.4:c.942+25_942+30del	ENSP00000483159.1:n.942+25_942+30del
ENST00000613514.4:c.942+25_942+30del	ENSP00000484137.1:n.942+25_942+30del
ENST00000617333.3:c.942+25_942+30del	ENSP00000482468.1:n.942+25_942+30del
ENST00000617938.4:c.942+25_942+30del	ENSP00000481158.1:n.942+25_942+30del
ENST00000621359.2:c.942+25_942+30del	ENSP00000481416.1:n.942+25_942+30del
NM_000251.2:c.942+25_942+30del , LRG_218t1:c.942+25_942+30del	NP_000242.1:n.942+25_942+30del
NM_001258281.1:c.744+25_744+30del	NP_001245210.1:n.744+25_744+30del
XM_005264332.2:c.942+25_942+30del	XP_005264389.2:n.942+25_942+30del
XM_011532867.1:c.942+25_942+30del	XP_011531169.1:n.942+25_942+30del
XR_939685.1:n.1014+25_1014+30del
XM_005264332.4:c.942+25_942+30del	XP_005264389.2:n.942+25_942+30del
XM_011532867.2:c.942+25_942+30del	XP_011531169.1:n.942+25_942+30del
XR_001738747.2:n.1004+25_1004+30del
XR_939685.2:n.1004+25_1004+30del
NM_000251.3:c.942+25_942+30del MANE Select	NP_000242.1:n.942+25_942+30del