Canonical Allele Identifier: CA399799062

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42455116T>A (hg19) ; chr17:g.44377748T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44377748T>A , CM000679.2:g.44377748T>A	GRCh38
NC_000017.10:g.42455116T>A , CM000679.1:g.42455116T>A	GRCh37
NC_000017.9:g.39810642T>A	NCBI36
NG_008331.1:g.16758A>T , LRG_479:g.16758A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2137A>T MANE Select	ENSP00000262407.5:p.Thr713Ser
ENST00000648408.1:c.1568A>T
ENST00000262407.5:c.2137A>T	ENSP00000262407.5:p.Thr713Ser
ENST00000592462.5:n.932A>T
NM_000419.3:c.2137A>T , LRG_479t1:c.2137A>T	NP_000410.2:p.Thr713Ser
XM_011524749.1:c.2137A>T	XP_011523051.1:p.Thr713Ser
XM_011524750.1:c.2137A>T	XP_011523052.1:p.Thr713Ser
NM_000419.4:c.2137A>T	NP_000410.2:p.Thr713Ser
NM_000419.5:c.2137A>T MANE Select	NP_000410.2:p.Thr713Ser