Canonical Allele Identifier: CA399805119

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42461939C>A (hg19) ; chr17:g.44384571C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44384571C>A , CM000679.2:g.44384571C>A	GRCh38
NC_000017.10:g.42461939C>A , CM000679.1:g.42461939C>A	GRCh37
NC_000017.9:g.39817465C>A	NCBI36
NG_008331.1:g.9935G>T , LRG_479:g.9935G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.814G>T MANE Select	ENSP00000262407.5:p.Val272Leu
ENST00000648408.1:c.245G>T
ENST00000262407.5:c.814G>T	ENSP00000262407.5:p.Val272Leu
ENST00000589645.5:n.265G>T
ENST00000591990.5:n.176G>T
ENST00000592075.5:n.183G>T
ENST00000592226.5:n.54G>T
ENST00000592253.5:n.322G>T
ENST00000592944.1:n.496G>T
NM_000419.3:c.814G>T , LRG_479t1:c.814G>T	NP_000410.2:p.Val272Leu
XM_011524749.1:c.814G>T	XP_011523051.1:p.Val272Leu
XM_011524750.1:c.814G>T	XP_011523052.1:p.Val272Leu
NM_000419.4:c.814G>T	NP_000410.2:p.Val272Leu
NM_000419.5:c.814G>T MANE Select	NP_000410.2:p.Val272Leu