Canonical Allele Identifier: CA8602445
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs758296583
ExAC: 17:42449694 C / T
gnomAD v2: 17-42449694-C-T
gnomAD v3: 17-44372326-C-T
gnomAD v4: 17-44372326-C-T
MyVariant Identifiers: chr17:g.42449694C>T (hg19) chr17:g.44372326C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372326C>T , CM000679.2:g.44372326C>T GRCh38
NC_000017.10:g.42449694C>T , CM000679.1:g.42449694C>T GRCh37
NC_000017.9:g.39805220C>T NCBI36
NG_008331.1:g.22180G>A , LRG_479:g.22180G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.*38G>A MANE Select ENSP00000262407.5:n.*38G>A
ENST00000648408.1:c.2472G>A
ENST00000262407.5:c.*38G>A ENSP00000262407.5:n.*38G>A
ENST00000587295.5:c.351G>A
ENST00000588098.1:c.135G>A
NM_000419.3:c.*38G>A , LRG_479t1:c.*38G>A NP_000410.2:n.*38G>A
XM_011524749.1:c.*38G>A XP_011523051.1:n.*38G>A
XM_011524750.1:c.*38G>A XP_011523052.1:n.*38G>A
NM_000419.4:c.*38G>A NP_000410.2:n.*38G>A
NM_000419.5:c.*38G>A MANE Select NP_000410.2:n.*38G>A
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