Canonical Allele Identifier: CA500623895
Gene: ITGA2B HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44380004G>T
GRCh37 chr17:g.42457372G>T
gnomAD v2:
17:42457372 G / T
gnomAD v3:
17:44380004 G / T
gnomAD v4:
chr17-44380004-G-T
Joint Max Group AF 0.00008156 (AFR)
Genomes Max Group AF 0.00004738 (AFR)
Exomes Max Group AF 0.00007718 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44380004G>T , CM000679.2:g.44380004G>T GRCh38
NC_000017.10:g.42457372G>T , CM000679.1:g.42457372G>T GRCh37
NC_000017.9:g.39812898G>T NCBI36
NG_008331.1:g.14502C>A , LRG_479:g.14502C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1750C>A MANE Select ENSP00000262407.5:p.Arg584=
ENST00000648408.1:c.1181C>A
ENST00000262407.5:c.1750C>A ENSP00000262407.5:p.Arg584=
ENST00000592462.5:n.545C>A
NM_000419.3:c.1750C>A , LRG_479t1:c.1750C>A NP_000410.2:p.Arg584=
XM_011524749.1:c.1750C>A XP_011523051.1:p.Arg584=
XM_011524750.1:c.1750C>A XP_011523052.1:p.Arg584=
NM_000419.4:c.1750C>A NP_000410.2:p.Arg584=
NM_000419.5:c.1750C>A MANE Select NP_000410.2:p.Arg584=
Search 100 bp 5'
Search 100 bp 3'