Canonical Allele Identifier: CA427349450
Gene:

Linked Data

dbSNP Id: rs545745736
gnomAD v3: 2-88016395-A-C
gnomAD v4: 2-88016395-A-C
MyVariant Identifiers: chr2:g.88315914A>C (hg19) chr2:g.88016395A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016395A>C , CM000664.2:g.88016395A>C GRCh38
NC_000002.11:g.88315914A>C , CM000664.1:g.88315914A>C GRCh37
NC_000002.10:g.88097029A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.740A>C
XR_940336.3:n.740A>C
Search 100 bp 5'
Search 100 bp 3'