Canonical Allele Identifier: CA427349459
Gene:

Linked Data

dbSNP Id: rs531732742
gnomAD v3: 2-88016399-G-C
gnomAD v4: 2-88016399-G-C
MyVariant Identifiers: chr2:g.88315918G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016399G>C , CM000664.2:g.88016399G>C GRCh38
NC_000002.11:g.88315918G>C , CM000664.1:g.88315918G>C GRCh37
NC_000002.10:g.88097033G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.744G>C
XR_940336.3:n.744G>C