Canonical Allele Identifier: CA290950753
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2718161
ClinVar RCV Id: RCV003501429
dbSNP Id: rs940348946
gnomAD v2: 17-42458395-A-C
gnomAD v3: 17-44381027-A-C
gnomAD v4: 17-44381027-A-C
MyVariant Identifiers: chr17:g.42458395A>C (hg19) chr17:g.44381027A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44381027A>C , CM000679.2:g.44381027A>C GRCh38
NC_000017.10:g.42458395A>C , CM000679.1:g.42458395A>C GRCh37
NC_000017.9:g.39813921A>C NCBI36
NG_008331.1:g.13479T>G , LRG_479:g.13479T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1245T>G MANE Select ENSP00000262407.5:p.Ser415Arg
ENST00000648408.1:c.676T>G
ENST00000262407.5:c.1245T>G ENSP00000262407.5:p.Ser415Arg
ENST00000592226.5:n.485T>G
ENST00000592462.5:n.40T>G
NM_000419.3:c.1245T>G , LRG_479t1:c.1245T>G NP_000410.2:p.Ser415Arg
XM_011524749.1:c.1245T>G XP_011523051.1:p.Ser415Arg
XM_011524750.1:c.1245T>G XP_011523052.1:p.Ser415Arg
NM_000419.4:c.1245T>G NP_000410.2:p.Ser415Arg
NM_000419.5:c.1245T>G MANE Select NP_000410.2:p.Ser415Arg
Search 100 bp 5'
Search 100 bp 3'