Canonical Allele Identifier: CA427349540
Gene:

Linked Data

dbSNP Id: rs114848587
gnomAD v3: 2-88016440-C-G
gnomAD v4: 2-88016440-C-G
MyVariant Identifiers: chr2:g.88315959C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016440C>G , CM000664.2:g.88016440C>G GRCh38
NC_000002.11:g.88315959C>G , CM000664.1:g.88315959C>G GRCh37
NC_000002.10:g.88097074C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.785C>G
XR_940336.3:n.785C>G