Canonical Allele Identifier: CA399805356

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42462403A>G (hg19) ; chr17:g.44385035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385035A>G , CM000679.2:g.44385035A>G	GRCh38
NC_000017.10:g.42462403A>G , CM000679.1:g.42462403A>G	GRCh37
NC_000017.9:g.39817929A>G	NCBI36
NG_008331.1:g.9471T>C , LRG_479:g.9471T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.712T>C MANE Select	ENSP00000262407.5:p.Tyr238His
ENST00000648408.1:c.143T>C
ENST00000262407.5:c.712T>C	ENSP00000262407.5:p.Tyr238His
ENST00000589645.5:n.163T>C
ENST00000591990.5:n.74T>C
ENST00000592075.5:n.81T>C
ENST00000592226.5:n.39+129T>C
ENST00000592253.5:n.220T>C
ENST00000592944.1:n.394T>C
NM_000419.3:c.712T>C , LRG_479t1:c.712T>C	NP_000410.2:p.Tyr238His
XM_011524749.1:c.712T>C	XP_011523051.1:p.Tyr238His
XM_011524750.1:c.712T>C	XP_011523052.1:p.Tyr238His
NM_000419.4:c.712T>C	NP_000410.2:p.Tyr238His
NM_000419.5:c.712T>C MANE Select	NP_000410.2:p.Tyr238His