Canonical Allele Identifier: CA2638216460
Gene: ITGA2B HGNC NCBI

Linked Data

gnomAD v4: 17-44377614-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44377614A>C , CM000679.2:g.44377614A>C GRCh38
NC_000017.10:g.42454982A>C , CM000679.1:g.42454982A>C GRCh37
NC_000017.9:g.39810508A>C NCBI36
NG_008331.1:g.16892T>G , LRG_479:g.16892T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2187+84T>G MANE Select ENSP00000262407.5:n.2187+84T>G
ENST00000648408.1:c.1618+84T>G
ENST00000262407.5:c.2187+84T>G ENSP00000262407.5:n.2187+84T>G
ENST00000592462.5:n.982+84T>G
NM_000419.3:c.2187+84T>G , LRG_479t1:c.2187+84T>G NP_000410.2:n.2187+84T>G
XM_011524749.1:c.2187+84T>G XP_011523051.1:n.2187+84T>G
XM_011524750.1:c.2187+84T>G XP_011523052.1:n.2187+84T>G
NM_000419.4:c.2187+84T>G NP_000410.2:n.2187+84T>G
NM_000419.5:c.2187+84T>G MANE Select NP_000410.2:n.2187+84T>G
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