Canonical Allele Identifier: CA399790446

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42452033T>G (hg19) ; chr17:g.44374665T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374665T>G , CM000679.2:g.44374665T>G	GRCh38
NC_000017.10:g.42452033T>G , CM000679.1:g.42452033T>G	GRCh37
NC_000017.9:g.39807559T>G	NCBI36
NG_008331.1:g.19841A>C , LRG_479:g.19841A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2937A>C MANE Select	ENSP00000262407.5:p.Glu979Asp
ENST00000648408.1:c.2368A>C
ENST00000262407.5:c.2937A>C	ENSP00000262407.5:p.Glu979Asp
ENST00000587295.5:c.253+1168A>C
ENST00000588098.1:c.31A>C
ENST00000592462.5:n.2448A>C
NM_000419.3:c.2937A>C , LRG_479t1:c.2937A>C	NP_000410.2:p.Glu979Asp
XM_011524749.1:c.2842-195A>C	XP_011523051.1:n.2842-195A>C
XM_011524750.1:c.2937A>C	XP_011523052.1:p.Glu979Asp
NM_000419.4:c.2937A>C	NP_000410.2:p.Glu979Asp
NM_000419.5:c.2937A>C MANE Select	NP_000410.2:p.Glu979Asp