Canonical Allele Identifier: CA021934
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 186689
ClinVar RCV Id: RCV000166324
dbSNP Id: rs786203146
gnomAD v4: 2-47403078-G-A
MyVariant Identifiers: chr2:g.47630217G>A (hg19) chr2:g.47403078G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403078G>A , CM000664.2:g.47403078G>A GRCh38
NC_000002.11:g.47630217G>A , CM000664.1:g.47630217G>A GRCh37
NC_000002.10:g.47483721G>A NCBI36
NG_007110.2:g.4955G>A , LRG_218:g.4955G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-128G>A ENSP00000442697.1:n.-128G>A
ENST00000233146.6:c.-114G>A ENSP00000233146.2:n.-114G>A
ENST00000454849.5:c.-128G>A ENSP00000411482.1:n.-128G>A
ENST00000543555.5:c.-128G>A ENSP00000442697.1:n.-128G>A
NM_000251.2:c.-114G>A , LRG_218t1:c.-114G>A NP_000242.1:n.-114G>A
NM_001258281.1:c.-128G>A NP_001245210.1:n.-128G>A
Search 100 bp 5'
Search 100 bp 3'