Canonical Allele Identifier: CA46666115

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1767513
• ClinVar RCV Id: RCV002374348
• dbSNP Id: rs938136650
• gnomAD v3: 2-47403097-A-G
• gnomAD v4: 2-47403097-A-G
• MyVariant Identifiers: chr2:g.47403097A>G (hg38)

Genomic Alleles

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

Transcript Alleles

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