Canonical Allele Identifier: CA399805999
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1330330
ClinVar RCV Id: RCV001803423
dbSNP Id: rs2143489377
gnomAD v4: 17-44385693-C-T
MyVariant Identifiers: chr17:g.42463061C>T (hg19) chr17:g.44385693C>T (hg38)
ERepo: CA399805999/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44385693C>T , CM000679.2:g.44385693C>T GRCh38
NC_000017.10:g.42463061C>T , CM000679.1:g.42463061C>T GRCh37
NC_000017.9:g.39818587C>T NCBI36
NG_008331.1:g.8813G>A , LRG_479:g.8813G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.432G>A MANE Select ENSP00000262407.5:p.Trp144Ter
ENST00000262407.5:c.432G>A ENSP00000262407.5:p.Trp144Ter
ENST00000592944.1:n.117G>A
NM_000419.3:c.432G>A , LRG_479t1:c.432G>A NP_000410.2:p.Trp144Ter
XM_011524749.1:c.432G>A XP_011523051.1:p.Trp144Ter
XM_011524750.1:c.432G>A XP_011523052.1:p.Trp144Ter
NM_000419.4:c.432G>A NP_000410.2:p.Trp144Ter
NM_000419.5:c.432G>A MANE Select NP_000410.2:p.Trp144Ter
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