Canonical Allele Identifier: CA2638213320
Gene: ITGA2B HGNC NCBI

Linked Data

gnomAD v4: 17-44372250-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372250C>A , CM000679.2:g.44372250C>A GRCh38
NC_000017.10:g.42449618C>A , CM000679.1:g.42449618C>A GRCh37
NC_000017.9:g.39805144C>A NCBI36
NG_008331.1:g.22256G>T , LRG_479:g.22256G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.*114G>T MANE Select ENSP00000262407.5:n.*114G>T
ENST00000648408.1:c.2548G>T
ENST00000262407.5:c.*114G>T ENSP00000262407.5:n.*114G>T
ENST00000587295.5:c.427G>T
ENST00000588098.1:c.211G>T
NM_000419.3:c.*114G>T , LRG_479t1:c.*114G>T NP_000410.2:n.*114G>T
XM_011524749.1:c.*114G>T XP_011523051.1:n.*114G>T
XM_011524750.1:c.*114G>T XP_011523052.1:n.*114G>T
NM_000419.4:c.*114G>T NP_000410.2:n.*114G>T
NM_000419.5:c.*114G>T MANE Select NP_000410.2:n.*114G>T
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