Canonical Allele Identifier: CA399805344

Gene: ITGA2B

Linked Data

• dbSNP Id: rs2048631808
• gnomAD v4: 17-44385031-C-A
• MyVariant Identifiers: chr17:g.42462399C>A (hg19) ; chr17:g.44385031C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385031C>A , CM000679.2:g.44385031C>A	GRCh38
NC_000017.10:g.42462399C>A , CM000679.1:g.42462399C>A	GRCh37
NC_000017.9:g.39817925C>A	NCBI36
NG_008331.1:g.9475G>T , LRG_479:g.9475G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.716G>T MANE Select	ENSP00000262407.5:p.Arg239Leu
ENST00000648408.1:c.147G>T
ENST00000262407.5:c.716G>T	ENSP00000262407.5:p.Arg239Leu
ENST00000589645.5:n.167G>T
ENST00000591990.5:n.78G>T
ENST00000592075.5:n.85G>T
ENST00000592226.5:n.39+133G>T
ENST00000592253.5:n.224G>T
ENST00000592944.1:n.398G>T
NM_000419.3:c.716G>T , LRG_479t1:c.716G>T	NP_000410.2:p.Arg239Leu
XM_011524749.1:c.716G>T	XP_011523051.1:p.Arg239Leu
XM_011524750.1:c.716G>T	XP_011523052.1:p.Arg239Leu
NM_000419.4:c.716G>T	NP_000410.2:p.Arg239Leu
NM_000419.5:c.716G>T MANE Select	NP_000410.2:p.Arg239Leu