Canonical Allele Identifier: CA399280312
Gene: ZPBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39872476A>C , CM000679.2:g.39872476A>C GRCh38
NC_000017.10:g.38028729A>C , CM000679.1:g.38028729A>C GRCh37
NC_000017.9:g.35282255A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348931.9:c.613A>C MANE Select ENSP00000335384.5:p.Ile205Leu
ENST00000348931.8:c.613A>C ENSP00000335384.5:p.Ile205Leu
ENST00000377940.3:c.547A>C ENSP00000367174.3:p.Ile183Leu
ENST00000583811.5:c.259A>C ENSP00000462463.1:p.Ile87Leu
ENST00000584588.5:c.407-568A>C ENSP00000462067.1:n.407-568A>C
NM_198844.2:c.547A>C NP_942141.2:p.Ile183Leu
NM_199321.2:c.613A>C NP_955353.1:p.Ile205Leu
XM_011524298.1:c.613A>C XP_011522600.1:p.Ile205Leu
XR_002957959.1:n.804A>C
NM_198844.3:c.547A>C NP_942141.2:p.Ile183Leu
NM_199321.3:c.613A>C MANE Select NP_955353.1:p.Ile205Leu