Canonical Allele Identifier: CA399805352

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42462402T>C (hg19) ; chr17:g.44385034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385034T>C , CM000679.2:g.44385034T>C	GRCh38
NC_000017.10:g.42462402T>C , CM000679.1:g.42462402T>C	GRCh37
NC_000017.9:g.39817928T>C	NCBI36
NG_008331.1:g.9472A>G , LRG_479:g.9472A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.713A>G MANE Select	ENSP00000262407.5:p.Tyr238Cys
ENST00000648408.1:c.144A>G
ENST00000262407.5:c.713A>G	ENSP00000262407.5:p.Tyr238Cys
ENST00000589645.5:n.164A>G
ENST00000591990.5:n.75A>G
ENST00000592075.5:n.82A>G
ENST00000592226.5:n.39+130A>G
ENST00000592253.5:n.221A>G
ENST00000592944.1:n.395A>G
NM_000419.3:c.713A>G , LRG_479t1:c.713A>G	NP_000410.2:p.Tyr238Cys
XM_011524749.1:c.713A>G	XP_011523051.1:p.Tyr238Cys
XM_011524750.1:c.713A>G	XP_011523052.1:p.Tyr238Cys
NM_000419.4:c.713A>G	NP_000410.2:p.Tyr238Cys
NM_000419.5:c.713A>G MANE Select	NP_000410.2:p.Tyr238Cys