Canonical Allele Identifier: CA1649261

Gene: MSH2

Linked Data

• ClinVar Variation Id: 237416
• ClinVar RCV Id: RCV000227845
• dbSNP Id: rs755583143
• ExAC: 2:47641558 GTAAAA / G
• gnomAD v4: 2-47414419-GTAAAA-G
• MyVariant Identifiers: chr2:g.47641559_47641563del (hg19) ; chr2:g.47641559_47641565delinsAA (hg19) ; chr2:g.47414420_47414424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414420_47414424del , CM000664.2:g.47414420_47414424del	GRCh38
NC_000002.11:g.47641559_47641563del , CM000664.1:g.47641559_47641563del	GRCh37
NC_000002.10:g.47495063_47495067del	NCBI36
NG_007110.2:g.16297_16301del , LRG_218:g.16297_16301del

Transcript Alleles

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