Canonical Allele Identifier: CA399793708

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44375700-G-A
• MyVariant Identifiers: chr17:g.42453068G>A (hg19) ; chr17:g.44375700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375700G>A , CM000679.2:g.44375700G>A	GRCh38
NC_000017.10:g.42453068G>A , CM000679.1:g.42453068G>A	GRCh37
NC_000017.9:g.39808594G>A	NCBI36
NG_008331.1:g.18806C>T , LRG_479:g.18806C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2618C>T MANE Select	ENSP00000262407.5:p.Pro873Leu
ENST00000648408.1:c.2049C>T
ENST00000262407.5:c.2618C>T	ENSP00000262407.5:p.Pro873Leu
ENST00000587295.5:c.253+133C>T
ENST00000592462.5:n.1413C>T
NM_000419.3:c.2618C>T , LRG_479t1:c.2618C>T	NP_000410.2:p.Pro873Leu
XM_011524749.1:c.2618C>T	XP_011523051.1:p.Pro873Leu
XM_011524750.1:c.2618C>T	XP_011523052.1:p.Pro873Leu
NM_000419.4:c.2618C>T	NP_000410.2:p.Pro873Leu
NM_000419.5:c.2618C>T MANE Select	NP_000410.2:p.Pro873Leu