Canonical Allele Identifier: CA399279359
Gene: ZPBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39872302G>T , CM000679.2:g.39872302G>T GRCh38
NC_000017.10:g.38028555G>T , CM000679.1:g.38028555G>T GRCh37
NC_000017.9:g.35282081G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348931.9:c.439G>T MANE Select ENSP00000335384.5:p.Ala147Ser
ENST00000348931.8:c.439G>T ENSP00000335384.5:p.Ala147Ser
ENST00000377940.3:c.373G>T ENSP00000367174.3:p.Ala125Ser
ENST00000583811.5:c.85G>T ENSP00000462463.1:p.Ala29Ser
ENST00000584588.5:c.406+677G>T ENSP00000462067.1:n.406+677G>T
NM_198844.2:c.373G>T NP_942141.2:p.Ala125Ser
NM_199321.2:c.439G>T NP_955353.1:p.Ala147Ser
XM_011524298.1:c.439G>T XP_011522600.1:p.Ala147Ser
XR_002957959.1:n.630G>T
NM_198844.3:c.373G>T NP_942141.2:p.Ala125Ser
NM_199321.3:c.439G>T MANE Select NP_955353.1:p.Ala147Ser