Canonical Allele Identifier: CA399790558

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44374678-A-G
• MyVariant Identifiers: chr17:g.42452046A>G (hg19) ; chr17:g.44374678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374678A>G , CM000679.2:g.44374678A>G	GRCh38
NC_000017.10:g.42452046A>G , CM000679.1:g.42452046A>G	GRCh37
NC_000017.9:g.39807572A>G	NCBI36
NG_008331.1:g.19828T>C , LRG_479:g.19828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2924T>C MANE Select	ENSP00000262407.5:p.Leu975Pro
ENST00000648408.1:c.2355T>C
ENST00000262407.5:c.2924T>C	ENSP00000262407.5:p.Leu975Pro
ENST00000587295.5:c.253+1155T>C
ENST00000588098.1:c.18T>C
ENST00000592462.5:n.2435T>C
NM_000419.3:c.2924T>C , LRG_479t1:c.2924T>C	NP_000410.2:p.Leu975Pro
XM_011524749.1:c.2842-208T>C	XP_011523051.1:n.2842-208T>C
XM_011524750.1:c.2924T>C	XP_011523052.1:p.Leu975Pro
NM_000419.4:c.2924T>C	NP_000410.2:p.Leu975Pro
NM_000419.5:c.2924T>C MANE Select	NP_000410.2:p.Leu975Pro