Canonical Allele Identifier: CA2963260856
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44379791dup , CM000679.2:g.44379791dup GRCh38
NC_000017.10:g.42457159dup , CM000679.1:g.42457159dup GRCh37
NC_000017.9:g.39812685dup NCBI36
NG_008331.1:g.14715dup , LRG_479:g.14715dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1776dup MANE Select ENSP00000262407.5:p.Leu593AlafsTer?
ENST00000648408.1:c.1207dup
ENST00000262407.5:c.1776dup ENSP00000262407.5:p.Leu593AlafsTer?
ENST00000592462.5:n.571dup
NM_000419.3:c.1776dup , LRG_479t1:c.1776dup NP_000410.2:p.Leu593AlafsTer?
XM_011524749.1:c.1776dup XP_011523051.1:p.Leu593AlafsTer?
XM_011524750.1:c.1776dup XP_011523052.1:p.Leu593AlafsTer?
NM_000419.4:c.1776dup NP_000410.2:p.Leu593AlafsTer?
NM_000419.5:c.1776dup MANE Select NP_000410.2:p.Leu593AlafsTer?