Canonical Allele Identifier: CA8603387

Gene: ITGA2B

Linked Data

• dbSNP Id: rs375511253
• ExAC: 17:42462497 C / G
• gnomAD v2: 17-42462497-C-G
• gnomAD v3: 17-44385129-C-G
• gnomAD v4: 17-44385129-C-G
• MyVariant Identifiers: chr17:g.42462497C>G (hg19) ; chr17:g.44385129C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385129C>G , CM000679.2:g.44385129C>G	GRCh38
NC_000017.10:g.42462497C>G , CM000679.1:g.42462497C>G	GRCh37
NC_000017.9:g.39818023C>G	NCBI36
NG_008331.1:g.9377G>C , LRG_479:g.9377G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.670+35G>C MANE Select	ENSP00000262407.5:n.670+35G>C
ENST00000648408.1:c.101+35G>C
ENST00000262407.5:c.670+35G>C	ENSP00000262407.5:n.670+35G>C
ENST00000589645.5:n.121+35G>C
ENST00000591990.5:n.32+35G>C
ENST00000592075.5:n.39+35G>C
ENST00000592226.5:n.39+35G>C
ENST00000592253.5:n.178+35G>C
ENST00000592944.1:n.352+35G>C
NM_000419.3:c.670+35G>C , LRG_479t1:c.670+35G>C	NP_000410.2:n.670+35G>C
XM_011524749.1:c.670+35G>C	XP_011523051.1:n.670+35G>C
XM_011524750.1:c.670+35G>C	XP_011523052.1:n.670+35G>C
NM_000419.4:c.670+35G>C	NP_000410.2:n.670+35G>C
NM_000419.5:c.670+35G>C MANE Select	NP_000410.2:n.670+35G>C