Canonical Allele Identifier: CA532704919

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1791832
• ClinVar RCV Id: RCV002443912
• dbSNP Id: rs1289320240
• gnomAD v2: 2-47630222-G-A
• gnomAD v3: 2-47403083-G-A
• gnomAD v4: 2-47403083-G-A
• MyVariant Identifiers: chr2:g.47630222G>A (hg19) ; chr2:g.47403083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403083G>A , CM000664.2:g.47403083G>A	GRCh38
NC_000002.11:g.47630222G>A , CM000664.1:g.47630222G>A	GRCh37
NC_000002.10:g.47483726G>A	NCBI36
NG_007110.2:g.4960G>A , LRG_218:g.4960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-123G>A	ENSP00000442697.1:n.-123G>A
ENST00000233146.6:c.-109G>A	ENSP00000233146.2:n.-109G>A
ENST00000454849.5:c.-123G>A	ENSP00000411482.1:n.-123G>A
ENST00000543555.5:c.-123G>A	ENSP00000442697.1:n.-123G>A
NM_000251.2:c.-109G>A , LRG_218t1:c.-109G>A	NP_000242.1:n.-109G>A
NM_001258281.1:c.-123G>A	NP_001245210.1:n.-123G>A