Canonical Allele Identifier: CA399806000

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42463061C>G (hg19) ; chr17:g.44385693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385693C>G , CM000679.2:g.44385693C>G	GRCh38
NC_000017.10:g.42463061C>G , CM000679.1:g.42463061C>G	GRCh37
NC_000017.9:g.39818587C>G	NCBI36
NG_008331.1:g.8813G>C , LRG_479:g.8813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.432G>C MANE Select	ENSP00000262407.5:p.Trp144Cys
ENST00000262407.5:c.432G>C	ENSP00000262407.5:p.Trp144Cys
ENST00000592944.1:n.117G>C
NM_000419.3:c.432G>C , LRG_479t1:c.432G>C	NP_000410.2:p.Trp144Cys
XM_011524749.1:c.432G>C	XP_011523051.1:p.Trp144Cys
XM_011524750.1:c.432G>C	XP_011523052.1:p.Trp144Cys
NM_000419.4:c.432G>C	NP_000410.2:p.Trp144Cys
NM_000419.5:c.432G>C MANE Select	NP_000410.2:p.Trp144Cys