Canonical Allele Identifier: CA10639810
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 323540
ClinVar RCV Id: RCV000318864
dbSNP Id: rs77992265
gnomAD v2: 17-42449582-G-T
gnomAD v3: 17-44372214-G-T
gnomAD v4: 17-44372214-G-T
MyVariant Identifiers: chr17:g.42449582G>T (hg19) chr17:g.44372214G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372214G>T , CM000679.2:g.44372214G>T GRCh38
NC_000017.10:g.42449582G>T , CM000679.1:g.42449582G>T GRCh37
NC_000017.9:g.39805108G>T NCBI36
NG_008331.1:g.22292C>A , LRG_479:g.22292C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.*150C>A MANE Select ENSP00000262407.5:n.*150C>A
ENST00000648408.1:c.2584C>A
ENST00000262407.5:c.*150C>A ENSP00000262407.5:n.*150C>A
ENST00000587295.5:c.463C>A
ENST00000588098.1:c.247C>A
NM_000419.3:c.*150C>A , LRG_479t1:c.*150C>A NP_000410.2:n.*150C>A
XM_011524749.1:c.*150C>A XP_011523051.1:n.*150C>A
XM_011524750.1:c.*150C>A XP_011523052.1:n.*150C>A
NM_000419.4:c.*150C>A NP_000410.2:n.*150C>A
NM_000419.5:c.*150C>A MANE Select NP_000410.2:n.*150C>A
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