Canonical Allele Identifier: CA626224629

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1389501081
• gnomAD v2: 17-42462504-G-C
• gnomAD v4: 17-44385136-G-C
• MyVariant Identifiers: chr17:g.42462504G>C (hg19) ; chr17:g.44385136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385136G>C , CM000679.2:g.44385136G>C	GRCh38
NC_000017.10:g.42462504G>C , CM000679.1:g.42462504G>C	GRCh37
NC_000017.9:g.39818030G>C	NCBI36
NG_008331.1:g.9370C>G , LRG_479:g.9370C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.670+28C>G MANE Select	ENSP00000262407.5:n.670+28C>G
ENST00000648408.1:c.101+28C>G
ENST00000262407.5:c.670+28C>G	ENSP00000262407.5:n.670+28C>G
ENST00000589645.5:n.121+28C>G
ENST00000591990.5:n.32+28C>G
ENST00000592075.5:n.39+28C>G
ENST00000592226.5:n.39+28C>G
ENST00000592253.5:n.178+28C>G
ENST00000592944.1:n.352+28C>G
NM_000419.3:c.670+28C>G , LRG_479t1:c.670+28C>G	NP_000410.2:n.670+28C>G
XM_011524749.1:c.670+28C>G	XP_011523051.1:n.670+28C>G
XM_011524750.1:c.670+28C>G	XP_011523052.1:n.670+28C>G
NM_000419.4:c.670+28C>G	NP_000410.2:n.670+28C>G
NM_000419.5:c.670+28C>G MANE Select	NP_000410.2:n.670+28C>G