Canonical Allele Identifier: CA399803709
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2078810
ClinVar RCV Id: RCV002995021

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44381001A>C , CM000679.2:g.44381001A>C GRCh38
NC_000017.10:g.42458369A>C , CM000679.1:g.42458369A>C GRCh37
NC_000017.9:g.39813895A>C NCBI36
NG_008331.1:g.13505T>G , LRG_479:g.13505T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1271T>G MANE Select ENSP00000262407.5:p.Leu424Arg
ENST00000648408.1:c.702T>G
ENST00000262407.5:c.1271T>G ENSP00000262407.5:p.Leu424Arg
ENST00000592226.5:n.511T>G
ENST00000592462.5:n.66T>G
NM_000419.3:c.1271T>G , LRG_479t1:c.1271T>G NP_000410.2:p.Leu424Arg
XM_011524749.1:c.1271T>G XP_011523051.1:p.Leu424Arg
XM_011524750.1:c.1271T>G XP_011523052.1:p.Leu424Arg
NM_000419.4:c.1271T>G NP_000410.2:p.Leu424Arg
NM_000419.5:c.1271T>G MANE Select NP_000410.2:p.Leu424Arg