Canonical Allele Identifier: CA399279654
Gene: ZPBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39872357G>T , CM000679.2:g.39872357G>T GRCh38
NC_000017.10:g.38028610G>T , CM000679.1:g.38028610G>T GRCh37
NC_000017.9:g.35282136G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348931.9:c.494G>T MANE Select ENSP00000335384.5:p.Arg165Ile
ENST00000348931.8:c.494G>T ENSP00000335384.5:p.Arg165Ile
ENST00000377940.3:c.428G>T ENSP00000367174.3:p.Arg143Ile
ENST00000583811.5:c.140G>T ENSP00000462463.1:p.Arg47Ile
ENST00000584588.5:c.407-687G>T ENSP00000462067.1:n.407-687G>T
NM_198844.2:c.428G>T NP_942141.2:p.Arg143Ile
NM_199321.2:c.494G>T NP_955353.1:p.Arg165Ile
XM_011524298.1:c.494G>T XP_011522600.1:p.Arg165Ile
XR_002957959.1:n.685G>T
NM_198844.3:c.428G>T NP_942141.2:p.Arg143Ile
NM_199321.3:c.494G>T MANE Select NP_955353.1:p.Arg165Ile