Canonical Allele Identifier: CA399799489
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 458368
ClinVar RCV Id: RCV000527479
dbSNP Id: rs1555613692
MyVariant Identifiers: chr17:g.42455728A>G (hg19) chr17:g.44378360A>G (hg38)
ERepo: CA399799489/MONDO:0010119/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44378360A>G , CM000679.2:g.44378360A>G GRCh38
NC_000017.10:g.42455728A>G , CM000679.1:g.42455728A>G GRCh37
NC_000017.9:g.39811254A>G NCBI36
NG_008331.1:g.16146T>C , LRG_479:g.16146T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2094+2T>C MANE Select ENSP00000262407.5:n.2094+2T>C
ENST00000648408.1:c.1525+2T>C
ENST00000262407.5:c.2094+2T>C ENSP00000262407.5:n.2094+2T>C
ENST00000592462.5:n.889+2T>C
NM_000419.3:c.2094+2T>C , LRG_479t1:c.2094+2T>C NP_000410.2:n.2094+2T>C
XM_011524749.1:c.2094+2T>C XP_011523051.1:n.2094+2T>C
XM_011524750.1:c.2094+2T>C XP_011523052.1:n.2094+2T>C
NM_000419.4:c.2094+2T>C NP_000410.2:n.2094+2T>C
NM_000419.5:c.2094+2T>C MANE Select NP_000410.2:n.2094+2T>C
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