Canonical Allele Identifier: CA399790867
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs2143429371

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374711G>A , CM000679.2:g.44374711G>A GRCh38
NC_000017.10:g.42452079G>A , CM000679.1:g.42452079G>A GRCh37
NC_000017.9:g.39807605G>A NCBI36
NG_008331.1:g.19795C>T , LRG_479:g.19795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2891C>T MANE Select ENSP00000262407.5:p.Ser964Phe
ENST00000648408.1:c.2322C>T
ENST00000262407.5:c.2891C>T ENSP00000262407.5:p.Ser964Phe
ENST00000587295.5:c.253+1122C>T
ENST00000592462.5:n.2402C>T
NM_000419.3:c.2891C>T , LRG_479t1:c.2891C>T NP_000410.2:p.Ser964Phe
XM_011524749.1:c.2842-241C>T XP_011523051.1:n.2842-241C>T
XM_011524750.1:c.2891C>T XP_011523052.1:p.Ser964Phe
NM_000419.4:c.2891C>T NP_000410.2:p.Ser964Phe
NM_000419.5:c.2891C>T MANE Select NP_000410.2:p.Ser964Phe