Canonical Allele Identifier: CA399803558

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42458297A>C (hg19) ; chr17:g.44380929A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44380929A>C , CM000679.2:g.44380929A>C	GRCh38
NC_000017.10:g.42458297A>C , CM000679.1:g.42458297A>C	GRCh37
NC_000017.9:g.39813823A>C	NCBI36
NG_008331.1:g.13577T>G , LRG_479:g.13577T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.1343T>G MANE Select	ENSP00000262407.5:p.Phe448Cys
ENST00000648408.1:c.774T>G
ENST00000262407.5:c.1343T>G	ENSP00000262407.5:p.Phe448Cys
ENST00000592226.5:n.583T>G
ENST00000592462.5:n.138T>G
NM_000419.3:c.1343T>G , LRG_479t1:c.1343T>G	NP_000410.2:p.Phe448Cys
XM_011524749.1:c.1343T>G	XP_011523051.1:p.Phe448Cys
XM_011524750.1:c.1343T>G	XP_011523052.1:p.Phe448Cys
NM_000419.4:c.1343T>G	NP_000410.2:p.Phe448Cys
NM_000419.5:c.1343T>G MANE Select	NP_000410.2:p.Phe448Cys