Canonical Allele Identifier: CA399805471
Community Standard Title: NM_000419.5(ITGA2B):c.664T>C (p.Phe222Leu)
Gene: ITGA2B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44385170A>G , CM000679.2:g.44385170A>G GRCh38
NC_000017.10:g.42462538A>G , CM000679.1:g.42462538A>G GRCh37
NC_000017.9:g.39818064A>G NCBI36
NG_008331.1:g.9336T>C , LRG_479:g.9336T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.664T>C MANE Select NP_000410.2:p.Phe222Leu
ENST00000262407.6:c.664T>C MANE Select ENSP00000262407.5:p.Phe222Leu
NM_000419.3:c.664T>C , LRG_479t1:c.664T>C NP_000410.2:p.Phe222Leu
NM_000419.4:c.664T>C NP_000410.2:p.Phe222Leu
ENST00000262407.5:c.664T>C ENSP00000262407.5:p.Phe222Leu
ENST00000589645.5:n.115T>C
ENST00000591990.5:n.26T>C
ENST00000592075.5:n.33T>C
ENST00000592226.5:n.33T>C
ENST00000592253.5:n.172T>C
ENST00000592944.1:n.346T>C
ENST00000648408.1:c.95T>C
XM_011524749.1:c.664T>C XP_011523051.1:p.Phe222Leu
XM_011524750.1:c.664T>C XP_011523052.1:p.Phe222Leu
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