Canonical Allele Identifier: CA290946688

Gene: ITGA2B

Linked Data

• dbSNP Id: rs921552973
• gnomAD v2: 17-42452710-T-C
• gnomAD v3: 17-44375342-T-C
• gnomAD v4: 17-44375342-T-C
• MyVariant Identifiers: chr17:g.42452710T>C (hg19) ; chr17:g.44375342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375342T>C , CM000679.2:g.44375342T>C	GRCh38
NC_000017.10:g.42452710T>C , CM000679.1:g.42452710T>C	GRCh37
NC_000017.9:g.39808236T>C	NCBI36
NG_008331.1:g.19164A>G , LRG_479:g.19164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2728-231A>G MANE Select	ENSP00000262407.5:n.2728-231A>G
ENST00000648408.1:c.2159-231A>G
ENST00000262407.5:c.2728-231A>G	ENSP00000262407.5:n.2728-231A>G
ENST00000587295.5:c.253+491A>G
ENST00000592462.5:n.1771A>G
NM_000419.3:c.2728-231A>G , LRG_479t1:c.2728-231A>G	NP_000410.2:n.2728-231A>G
XM_011524749.1:c.2728-231A>G	XP_011523051.1:n.2728-231A>G
XM_011524750.1:c.2728-231A>G	XP_011523052.1:n.2728-231A>G
NM_000419.4:c.2728-231A>G	NP_000410.2:n.2728-231A>G
NM_000419.5:c.2728-231A>G MANE Select	NP_000410.2:n.2728-231A>G