Canonical Allele Identifier: CA8602631
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 323544
ClinVar RCV Id: RCV000343819 RCV001820969
dbSNP Id: rs149468422
ExAC: 17:42453072 G / T
gnomAD v2: 17-42453072-G-T
gnomAD v3: 17-44375704-G-T
gnomAD v4: 17-44375704-G-T
MyVariant Identifiers: chr17:g.42453072G>T (hg19) chr17:g.44375704G>T (hg38)
ERepo: CA8602631/MONDO:0010119/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44375704G>T , CM000679.2:g.44375704G>T GRCh38
NC_000017.10:g.42453072G>T , CM000679.1:g.42453072G>T GRCh37
NC_000017.9:g.39808598G>T NCBI36
NG_008331.1:g.18802C>A , LRG_479:g.18802C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2614C>A MANE Select ENSP00000262407.5:p.Leu872Met
ENST00000648408.1:c.2045C>A
ENST00000262407.5:c.2614C>A ENSP00000262407.5:p.Leu872Met
ENST00000587295.5:c.253+129C>A
ENST00000592462.5:n.1409C>A
NM_000419.3:c.2614C>A , LRG_479t1:c.2614C>A NP_000410.2:p.Leu872Met
XM_011524749.1:c.2614C>A XP_011523051.1:p.Leu872Met
XM_011524750.1:c.2614C>A XP_011523052.1:p.Leu872Met
NM_000419.4:c.2614C>A NP_000410.2:p.Leu872Met
NM_000419.5:c.2614C>A MANE Select NP_000410.2:p.Leu872Met
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