Canonical Allele Identifier: CA399791854

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1415281578
• gnomAD v2: 17-42452410-T-A
• MyVariant Identifiers: chr17:g.42452410T>A (hg19) ; chr17:g.44375042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375042T>A , CM000679.2:g.44375042T>A	GRCh38
NC_000017.10:g.42452410T>A , CM000679.1:g.42452410T>A	GRCh37
NC_000017.9:g.39807936T>A	NCBI36
NG_008331.1:g.19464A>T , LRG_479:g.19464A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2797A>T MANE Select	ENSP00000262407.5:p.Met933Leu
ENST00000648408.1:c.2228A>T
ENST00000262407.5:c.2797A>T	ENSP00000262407.5:p.Met933Leu
ENST00000587295.5:c.253+791A>T
ENST00000592462.5:n.2071A>T
NM_000419.3:c.2797A>T , LRG_479t1:c.2797A>T	NP_000410.2:p.Met933Leu
XM_011524749.1:c.2797A>T	XP_011523051.1:p.Met933Leu
XM_011524750.1:c.2797A>T	XP_011523052.1:p.Met933Leu
NM_000419.4:c.2797A>T	NP_000410.2:p.Met933Leu
NM_000419.5:c.2797A>T MANE Select	NP_000410.2:p.Met933Leu