Canonical Allele Identifier: CA290946182

Gene: ITGA2B

Linked Data

• dbSNP Id: rs914957075
• gnomAD v4: 17-44374690-G-T
• MyVariant Identifiers: chr17:g.42452058G>T (hg19) ; chr17:g.44374690G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374690G>T , CM000679.2:g.44374690G>T	GRCh38
NC_000017.10:g.42452058G>T , CM000679.1:g.42452058G>T	GRCh37
NC_000017.9:g.39807584G>T	NCBI36
NG_008331.1:g.19816C>A , LRG_479:g.19816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2912C>A MANE Select	ENSP00000262407.5:p.Pro971His
ENST00000648408.1:c.2343C>A
ENST00000262407.5:c.2912C>A	ENSP00000262407.5:p.Pro971His
ENST00000587295.5:c.253+1143C>A
ENST00000588098.1:c.6C>A
ENST00000592462.5:n.2423C>A
NM_000419.3:c.2912C>A , LRG_479t1:c.2912C>A	NP_000410.2:p.Pro971His
XM_011524749.1:c.2842-220C>A	XP_011523051.1:n.2842-220C>A
XM_011524750.1:c.2912C>A	XP_011523052.1:p.Pro971His
NM_000419.4:c.2912C>A	NP_000410.2:p.Pro971His
NM_000419.5:c.2912C>A MANE Select	NP_000410.2:p.Pro971His