Canonical Allele Identifier: CA331196

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90495
• ClinVar RCV Id: RCV001184534 ; RCV003477471
• dbSNP Id: rs587779187
• gnomAD v3: 2-47403110-G-GA
• gnomAD v4: 2-47403110-G-GA
• MyVariant Identifiers: chr2:g.47630250dupA (hg19) ; chr2:g.47630249_47630250insA (hg19) ; chr2:g.47403111dupA (hg38) ; chr2:g.47403110_47403111insA (hg38)
• PubMed: PMID:11782355 ; PMID:15365995

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403111dup , CM000664.2:g.47403111dup	GRCh38
NC_000002.11:g.47630250dup , CM000664.1:g.47630250dup	GRCh37
NC_000002.10:g.47483754dup	NCBI36
NG_007110.2:g.4988dup , LRG_218:g.4988dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000543555.6:c.-95dup	ENSP00000442697.1:n.-95dup
ENST00000233146.6:c.-81dup	ENSP00000233146.2:n.-81dup
ENST00000454849.5:c.-95dup	ENSP00000411482.1:n.-95dup
ENST00000543555.5:c.-95dup	ENSP00000442697.1:n.-95dup
NM_000251.2:c.-81dup , LRG_218t1:c.-81dup	NP_000242.1:n.-81dup
NM_001258281.1:c.-95dup	NP_001245210.1:n.-95dup