Canonical Allele Identifier: CA427349503
Gene:

Linked Data

dbSNP Id: rs1040484310
gnomAD v2: 2-88315943-C-A
gnomAD v3: 2-88016424-C-A
gnomAD v4: 2-88016424-C-A
MyVariant Identifiers: chr2:g.88315943C>A (hg19) chr2:g.88016424C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016424C>A , CM000664.2:g.88016424C>A GRCh38
NC_000002.11:g.88315943C>A , CM000664.1:g.88315943C>A GRCh37
NC_000002.10:g.88097058C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.769C>A
XR_940336.3:n.769C>A
Search 100 bp 5'
Search 100 bp 3'