Canonical Allele Identifier: CA500262540
Gene: ITGA2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42452051G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374683G>C , CM000679.2:g.44374683G>C GRCh38
NC_000017.10:g.42452051G>C , CM000679.1:g.42452051G>C GRCh37
NC_000017.9:g.39807577G>C NCBI36
NG_008331.1:g.19823C>G , LRG_479:g.19823C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2919C>G MANE Select ENSP00000262407.5:p.Leu973=
ENST00000648408.1:c.2350C>G
ENST00000262407.5:c.2919C>G ENSP00000262407.5:p.Leu973=
ENST00000587295.5:c.253+1150C>G
ENST00000588098.1:c.13C>G
ENST00000592462.5:n.2430C>G
NM_000419.3:c.2919C>G , LRG_479t1:c.2919C>G NP_000410.2:p.Leu973=
XM_011524749.1:c.2842-213C>G XP_011523051.1:n.2842-213C>G
XM_011524750.1:c.2919C>G XP_011523052.1:p.Leu973=
NM_000419.4:c.2919C>G NP_000410.2:p.Leu973=
NM_000419.5:c.2919C>G MANE Select NP_000410.2:p.Leu973=