Canonical Allele Identifier: CA8602546
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 323542
ClinVar RCV Id: RCV000334068
dbSNP Id: rs759462215
ExAC: 17:42452099 C / T
gnomAD v2: 17-42452099-C-T
gnomAD v3: 17-44374731-C-T
gnomAD v4: 17-44374731-C-T
MyVariant Identifiers: chr17:g.42452099C>T (hg19) chr17:g.44374731C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374731C>T , CM000679.2:g.44374731C>T GRCh38
NC_000017.10:g.42452099C>T , CM000679.1:g.42452099C>T GRCh37
NC_000017.9:g.39807625C>T NCBI36
NG_008331.1:g.19775G>A , LRG_479:g.19775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2871G>A MANE Select ENSP00000262407.5:p.Ser957=
ENST00000648408.1:c.2302G>A
ENST00000262407.5:c.2871G>A ENSP00000262407.5:p.Ser957=
ENST00000587295.5:c.253+1102G>A
ENST00000592462.5:n.2382G>A
NM_000419.3:c.2871G>A , LRG_479t1:c.2871G>A NP_000410.2:p.Ser957=
XM_011524749.1:c.2842-261G>A XP_011523051.1:n.2842-261G>A
XM_011524750.1:c.2871G>A XP_011523052.1:p.Ser957=
NM_000419.4:c.2871G>A NP_000410.2:p.Ser957=
NM_000419.5:c.2871G>A MANE Select NP_000410.2:p.Ser957=
Search 100 bp 5'
Search 100 bp 3'