Canonical Allele Identifier: CA658683230

Gene: MSH2

Linked Data

• ClinVar Variation Id: 491786
• ClinVar RCV Id: RCV000583064 ; RCV002529247
• dbSNP Id: rs1223758476
• gnomAD v4: 2-47475005-CT-C
• MyVariant Identifiers: chr2:g.47702145del (hg19) ; chr2:g.47475006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475006del , CM000664.2:g.47475006del	GRCh38
NC_000002.11:g.47702145del , CM000664.1:g.47702145del	GRCh37
NC_000002.10:g.47555649del	NCBI36
NG_007110.2:g.76883del , LRG_218:g.76883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1760-19del	ENSP00000495641.2:n.1760-19del
ENST00000233146.7:c.1760-19del MANE Select	ENSP00000233146.2:n.1760-19del
ENST00000543555.6:c.1562-19del	ENSP00000442697.1:n.1562-19del
ENST00000644092.1:c.*60-19del	ENSP00000496351.1:n.*60-19del
ENST00000645339.1:c.1760-19del	ENSP00000496441.1:n.1760-19del
ENST00000645506.1:c.1760-19del	ENSP00000495455.1:n.1760-19del
ENST00000646415.1:c.1760-19del	ENSP00000495543.1:n.1760-19del
ENST00000233146.6:c.1760-19del	ENSP00000233146.2:n.1760-19del
ENST00000406134.5:c.1760-19del	ENSP00000384199.1:n.1760-19del
ENST00000543555.5:c.1562-19del	ENSP00000442697.1:n.1562-19del
ENST00000610696.4:c.*156-19del	ENSP00000483159.1:n.*156-19del
ENST00000613514.4:c.*300-19del	ENSP00000484137.1:n.*300-19del
ENST00000617333.3:c.*526-19del	ENSP00000482468.1:n.*526-19del
ENST00000617938.4:c.*732-19del	ENSP00000481158.1:n.*732-19del
ENST00000621359.2:c.1760-19del	ENSP00000481416.1:n.1760-19del
NM_000251.2:c.1760-19del , LRG_218t1:c.1760-19del	NP_000242.1:n.1760-19del
NM_001258281.1:c.1562-19del	NP_001245210.1:n.1562-19del
XM_005264332.2:c.1760-19del	XP_005264389.2:n.1760-19del
XM_011532867.1:c.1760-19del	XP_011531169.1:n.1760-19del
XR_939685.1:n.1832-19del
XM_005264332.4:c.1760-19del	XP_005264389.2:n.1760-19del
XM_011532867.2:c.1760-19del	XP_011531169.1:n.1760-19del
XR_001738747.2:n.1822-19del
XR_939685.2:n.1822-19del
NM_000251.3:c.1760-19del MANE Select	NP_000242.1:n.1760-19del