Canonical Allele Identifier: CA769443382

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1767525
• ClinVar RCV Id: RCV002385288
• dbSNP Id: rs1291205959
• gnomAD v3: 2-47403096-GA-G
• gnomAD v4: 2-47403096-GA-G
• MyVariant Identifiers: chr2:g.47630236del (hg19) ; chr2:g.47403097del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403097del , CM000664.2:g.47403097del	GRCh38
NC_000002.11:g.47630236del , CM000664.1:g.47630236del	GRCh37
NC_000002.10:g.47483740del	NCBI36
NG_007110.2:g.4974del , LRG_218:g.4974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-109del	ENSP00000442697.1:n.-109del
ENST00000233146.6:c.-95del	ENSP00000233146.2:n.-95del
ENST00000454849.5:c.-109del	ENSP00000411482.1:n.-109del
ENST00000543555.5:c.-109del	ENSP00000442697.1:n.-109del
NM_000251.2:c.-95del , LRG_218t1:c.-95del	NP_000242.1:n.-95del
NM_001258281.1:c.-109del	NP_001245210.1:n.-109del