Canonical Allele Identifier: CA12557347
Gene: ITGB8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20369251G>C , CM000669.2:g.20369251G>C GRCh38
NC_000007.13:g.20408874G>C , CM000669.1:g.20408874G>C GRCh37
NC_000007.12:g.20375399G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000222573.5:c.388+2065G>C MANE Select ENSP00000222573.3:n.388+2065G>C
ENST00000222573.4:c.388+2065G>C ENSP00000222573.3:n.388+2065G>C
ENST00000477859.1:n.2542+2065G>C
ENST00000478974.1:n.1093+2065G>C
ENST00000537992.5:c.-18+2065G>C ENSP00000441561.1:n.-18+2065G>C
NM_002214.2:c.388+2065G>C NP_002205.1:n.388+2065G>C
XM_011515392.1:c.385+2065G>C XP_011513694.1:n.385+2065G>C
XM_011515393.1:c.364+2065G>C XP_011513695.1:n.364+2065G>C
XM_011515394.1:c.355+2065G>C XP_011513696.1:n.355+2065G>C
XM_011515395.1:c.-18+2065G>C XP_011513697.1:n.-18+2065G>C
XM_011515396.1:c.-18+2065G>C XP_011513698.1:n.-18+2065G>C
XM_011515393.2:c.364+2065G>C XP_011513695.1:n.364+2065G>C
XM_011515394.2:c.355+2065G>C XP_011513696.1:n.355+2065G>C
XM_017012178.1:c.388+2065G>C XP_016867667.1:n.388+2065G>C
XM_017012179.1:c.388+2065G>C XP_016867668.1:n.388+2065G>C
XM_017012180.1:c.-18+2065G>C XP_016867669.1:n.-18+2065G>C
XM_017012181.1:c.-18+2065G>C XP_016867670.1:n.-18+2065G>C
XM_017012182.1:c.-18+2065G>C XP_016867671.1:n.-18+2065G>C
XM_017012183.1:c.-18+2065G>C XP_016867672.1:n.-18+2065G>C
NM_002214.3:c.388+2065G>C MANE Select NP_002205.1:n.388+2065G>C