Canonical Allele Identifier: CA399804688
Community Standard Title: NM_000419.5(ITGA2B):c.998+1G>C
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44383893C>G , CM000679.2:g.44383893C>G GRCh38
NC_000017.10:g.42461261C>G , CM000679.1:g.42461261C>G GRCh37
NC_000017.9:g.39816787C>G NCBI36
NG_008331.1:g.10613G>C , LRG_479:g.10613G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.998+1G>C MANE Select NP_000410.2:n.998+1G>C
ENST00000262407.6:c.998+1G>C MANE Select ENSP00000262407.5:n.998+1G>C
NM_000419.3:c.998+1G>C , LRG_479t1:c.998+1G>C NP_000410.2:n.998+1G>C
NM_000419.4:c.998+1G>C NP_000410.2:n.998+1G>C
ENST00000262407.5:c.998+1G>C ENSP00000262407.5:n.998+1G>C
ENST00000589645.5:n.450G>C
ENST00000591990.5:n.543+1G>C
ENST00000592226.5:n.238+1G>C
ENST00000648408.1:c.429+1G>C
XM_011524749.1:c.998+1G>C XP_011523051.1:n.998+1G>C
XM_011524750.1:c.998+1G>C XP_011523052.1:n.998+1G>C