Canonical Allele Identifier: CA500262454
Gene: ITGA2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42452030A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374662A>C , CM000679.2:g.44374662A>C GRCh38
NC_000017.10:g.42452030A>C , CM000679.1:g.42452030A>C GRCh37
NC_000017.9:g.39807556A>C NCBI36
NG_008331.1:g.19844T>G , LRG_479:g.19844T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2940T>G MANE Select ENSP00000262407.5:p.Ala980=
ENST00000648408.1:c.2371T>G
ENST00000262407.5:c.2940T>G ENSP00000262407.5:p.Ala980=
ENST00000587295.5:c.253+1171T>G
ENST00000588098.1:c.34T>G
ENST00000592462.5:n.2451T>G
NM_000419.3:c.2940T>G , LRG_479t1:c.2940T>G NP_000410.2:p.Ala980=
XM_011524749.1:c.2842-192T>G XP_011523051.1:n.2842-192T>G
XM_011524750.1:c.2940T>G XP_011523052.1:p.Ala980=
NM_000419.4:c.2940T>G NP_000410.2:p.Ala980=
NM_000419.5:c.2940T>G MANE Select NP_000410.2:p.Ala980=