Canonical Allele Identifier: CA399279285
Gene: ZPBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39872293T>C , CM000679.2:g.39872293T>C GRCh38
NC_000017.10:g.38028546T>C , CM000679.1:g.38028546T>C GRCh37
NC_000017.9:g.35282072T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348931.9:c.430T>C MANE Select ENSP00000335384.5:p.Tyr144His
ENST00000348931.8:c.430T>C ENSP00000335384.5:p.Tyr144His
ENST00000377940.3:c.364T>C ENSP00000367174.3:p.Tyr122His
ENST00000583811.5:c.76T>C ENSP00000462463.1:p.Tyr26His
ENST00000584588.5:c.406+668T>C ENSP00000462067.1:n.406+668T>C
NM_198844.2:c.364T>C NP_942141.2:p.Tyr122His
NM_199321.2:c.430T>C NP_955353.1:p.Tyr144His
XM_011524298.1:c.430T>C XP_011522600.1:p.Tyr144His
XR_002957959.1:n.621T>C
NM_198844.3:c.364T>C NP_942141.2:p.Tyr122His
NM_199321.3:c.430T>C MANE Select NP_955353.1:p.Tyr144His