Canonical Allele Identifier: CA399802454
Community Standard Title: NM_000419.5(ITGA2B):c.1600+1G>A
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44380245C>T , CM000679.2:g.44380245C>T GRCh38
NC_000017.10:g.42457613C>T , CM000679.1:g.42457613C>T GRCh37
NC_000017.9:g.39813139C>T NCBI36
NG_008331.1:g.14261G>A , LRG_479:g.14261G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.1600+1G>A MANE Select NP_000410.2:n.1600+1G>A
ENST00000262407.6:c.1600+1G>A MANE Select ENSP00000262407.5:n.1600+1G>A
NM_000419.3:c.1600+1G>A , LRG_479t1:c.1600+1G>A NP_000410.2:n.1600+1G>A
NM_000419.4:c.1600+1G>A NP_000410.2:n.1600+1G>A
ENST00000262407.5:c.1600+1G>A ENSP00000262407.5:n.1600+1G>A
ENST00000592226.5:n.1073+1G>A
ENST00000592462.5:n.395+1G>A
ENST00000648408.1:c.1031+1G>A
XM_011524749.1:c.1600+1G>A XP_011523051.1:n.1600+1G>A
XM_011524750.1:c.1600+1G>A XP_011523052.1:n.1600+1G>A