Canonical Allele Identifier: CA54648255

Gene:

Linked Data

• dbSNP Id: rs1033265372
• MyVariant Identifiers: chr2:g.121089470C>G (hg19) ; chr2:g.120331894C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120331894C>G , CM000664.2:g.120331894C>G	GRCh38
NC_000002.11:g.121089470C>G , CM000664.1:g.121089470C>G	GRCh37
NC_000002.10:g.120805940C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512307.1:c.141+3088C>G	XP_011510609.1:n.141+3088C>G