Canonical Allele Identifier: CA399793695

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44375698-T-G
• MyVariant Identifiers: chr17:g.42453066T>G (hg19) ; chr17:g.44375698T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375698T>G , CM000679.2:g.44375698T>G	GRCh38
NC_000017.10:g.42453066T>G , CM000679.1:g.42453066T>G	GRCh37
NC_000017.9:g.39808592T>G	NCBI36
NG_008331.1:g.18808A>C , LRG_479:g.18808A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2620A>C MANE Select	ENSP00000262407.5:p.Ile874Leu
ENST00000648408.1:c.2051A>C
ENST00000262407.5:c.2620A>C	ENSP00000262407.5:p.Ile874Leu
ENST00000587295.5:c.253+135A>C
ENST00000592462.5:n.1415A>C
NM_000419.3:c.2620A>C , LRG_479t1:c.2620A>C	NP_000410.2:p.Ile874Leu
XM_011524749.1:c.2620A>C	XP_011523051.1:p.Ile874Leu
XM_011524750.1:c.2620A>C	XP_011523052.1:p.Ile874Leu
NM_000419.4:c.2620A>C	NP_000410.2:p.Ile874Leu
NM_000419.5:c.2620A>C MANE Select	NP_000410.2:p.Ile874Leu