Canonical Allele Identifier: CA399791709

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42452391A>G (hg19) ; chr17:g.44375023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375023A>G , CM000679.2:g.44375023A>G	GRCh38
NC_000017.10:g.42452391A>G , CM000679.1:g.42452391A>G	GRCh37
NC_000017.9:g.39807917A>G	NCBI36
NG_008331.1:g.19483T>C , LRG_479:g.19483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2816T>C MANE Select	ENSP00000262407.5:p.Phe939Ser
ENST00000648408.1:c.2247T>C
ENST00000262407.5:c.2816T>C	ENSP00000262407.5:p.Phe939Ser
ENST00000587295.5:c.253+810T>C
ENST00000592462.5:n.2090T>C
NM_000419.3:c.2816T>C , LRG_479t1:c.2816T>C	NP_000410.2:p.Phe939Ser
XM_011524749.1:c.2816T>C	XP_011523051.1:p.Phe939Ser
XM_011524750.1:c.2816T>C	XP_011523052.1:p.Phe939Ser
NM_000419.4:c.2816T>C	NP_000410.2:p.Phe939Ser
NM_000419.5:c.2816T>C MANE Select	NP_000410.2:p.Phe939Ser