Canonical Allele Identifier: CA500262518

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44374677-C-A
• MyVariant Identifiers: chr17:g.42452045C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374677C>A , CM000679.2:g.44374677C>A	GRCh38
NC_000017.10:g.42452045C>A , CM000679.1:g.42452045C>A	GRCh37
NC_000017.9:g.39807571C>A	NCBI36
NG_008331.1:g.19829G>T , LRG_479:g.19829G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2925G>T MANE Select	ENSP00000262407.5:p.Leu975=
ENST00000648408.1:c.2356G>T
ENST00000262407.5:c.2925G>T	ENSP00000262407.5:p.Leu975=
ENST00000587295.5:c.253+1156G>T
ENST00000588098.1:c.19G>T
ENST00000592462.5:n.2436G>T
NM_000419.3:c.2925G>T , LRG_479t1:c.2925G>T	NP_000410.2:p.Leu975=
XM_011524749.1:c.2842-207G>T	XP_011523051.1:n.2842-207G>T
XM_011524750.1:c.2925G>T	XP_011523052.1:p.Leu975=
NM_000419.4:c.2925G>T	NP_000410.2:p.Leu975=
NM_000419.5:c.2925G>T MANE Select	NP_000410.2:p.Leu975=