Canonical Allele Identifier: CA290946053

Gene: ITGA2B

Linked Data

• dbSNP Id: rs902712982
• gnomAD v3: 17-44374573-C-T
• gnomAD v4: 17-44374573-C-T
• MyVariant Identifiers: chr17:g.42451941C>T (hg19) ; chr17:g.44374573C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374573C>T , CM000679.2:g.44374573C>T	GRCh38
NC_000017.10:g.42451941C>T , CM000679.1:g.42451941C>T	GRCh37
NC_000017.9:g.39807467C>T	NCBI36
NG_008331.1:g.19933G>A , LRG_479:g.19933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2943+86G>A MANE Select	ENSP00000262407.5:n.2943+86G>A
ENST00000648408.1:c.2374+86G>A
ENST00000262407.5:c.2943+86G>A	ENSP00000262407.5:n.2943+86G>A
ENST00000587295.5:c.253+1260G>A
ENST00000588098.1:c.37+86G>A
ENST00000592462.5:n.2540G>A
NM_000419.3:c.2943+86G>A , LRG_479t1:c.2943+86G>A	NP_000410.2:n.2943+86G>A
XM_011524749.1:c.2842-103G>A	XP_011523051.1:n.2842-103G>A
XM_011524750.1:c.2943+86G>A	XP_011523052.1:n.2943+86G>A
NM_000419.4:c.2943+86G>A	NP_000410.2:n.2943+86G>A
NM_000419.5:c.2943+86G>A MANE Select	NP_000410.2:n.2943+86G>A