Canonical Allele Identifier: CA983995115
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs2048525899
gnomAD v3: 17-44374860-C-T
gnomAD v4: 17-44374860-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374860C>T , CM000679.2:g.44374860C>T GRCh38
NC_000017.10:g.42452228C>T , CM000679.1:g.42452228C>T GRCh37
NC_000017.9:g.39807754C>T NCBI36
NG_008331.1:g.19646G>A , LRG_479:g.19646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2842-100G>A MANE Select ENSP00000262407.5:n.2842-100G>A
ENST00000648408.1:c.2273-100G>A
ENST00000262407.5:c.2842-100G>A ENSP00000262407.5:n.2842-100G>A
ENST00000587295.5:c.253+973G>A
ENST00000592462.5:n.2253G>A
NM_000419.3:c.2842-100G>A , LRG_479t1:c.2842-100G>A NP_000410.2:n.2842-100G>A
XM_011524749.1:c.2841+138G>A XP_011523051.1:n.2841+138G>A
XM_011524750.1:c.2842-100G>A XP_011523052.1:n.2842-100G>A
NM_000419.4:c.2842-100G>A NP_000410.2:n.2842-100G>A
NM_000419.5:c.2842-100G>A MANE Select NP_000410.2:n.2842-100G>A
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