Canonical Allele Identifier: CA399805466
Community Standard Title: NM_000419.5(ITGA2B):c.666C>G (p.Phe222Leu)
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44385168G>C , CM000679.2:g.44385168G>C GRCh38
NC_000017.10:g.42462536G>C , CM000679.1:g.42462536G>C GRCh37
NC_000017.9:g.39818062G>C NCBI36
NG_008331.1:g.9338C>G , LRG_479:g.9338C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.666C>G MANE Select NP_000410.2:p.Phe222Leu
ENST00000262407.6:c.666C>G MANE Select ENSP00000262407.5:p.Phe222Leu
NM_000419.3:c.666C>G , LRG_479t1:c.666C>G NP_000410.2:p.Phe222Leu
NM_000419.4:c.666C>G NP_000410.2:p.Phe222Leu
ENST00000262407.5:c.666C>G ENSP00000262407.5:p.Phe222Leu
ENST00000589645.5:n.117C>G
ENST00000591990.5:n.28C>G
ENST00000592075.5:n.35C>G
ENST00000592226.5:n.35C>G
ENST00000592253.5:n.174C>G
ENST00000592944.1:n.348C>G
ENST00000648408.1:c.97C>G
XM_011524749.1:c.666C>G XP_011523051.1:p.Phe222Leu
XM_011524750.1:c.666C>G XP_011523052.1:p.Phe222Leu