Canonical Allele Identifier: CA10577908

Gene: MSH2

Linked Data

• ClinVar Variation Id: 231091
• ClinVar RCV Id: RCV001549839 ; RCV003491972 ; RCV000219414 ; RCV001267894
• dbSNP Id: rs866991159
• gnomAD v4: 2-47403110-G-C
• MyVariant Identifiers: chr2:g.47630249G>C (hg19) ; chr2:g.47403110G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403110G>C , CM000664.2:g.47403110G>C	GRCh38
NC_000002.11:g.47630249G>C , CM000664.1:g.47630249G>C	GRCh37
NC_000002.10:g.47483753G>C	NCBI36
NG_007110.2:g.4987G>C , LRG_218:g.4987G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-96G>C	ENSP00000442697.1:n.-96G>C
ENST00000233146.6:c.-82G>C	ENSP00000233146.2:n.-82G>C
ENST00000454849.5:c.-96G>C	ENSP00000411482.1:n.-96G>C
ENST00000543555.5:c.-96G>C	ENSP00000442697.1:n.-96G>C
NM_000251.2:c.-82G>C , LRG_218t1:c.-82G>C	NP_000242.1:n.-82G>C
NM_001258281.1:c.-96G>C	NP_001245210.1:n.-96G>C