Canonical Allele Identifier: CA399279710
Gene: ZPBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39872371A>C , CM000679.2:g.39872371A>C GRCh38
NC_000017.10:g.38028624A>C , CM000679.1:g.38028624A>C GRCh37
NC_000017.9:g.35282150A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348931.9:c.508A>C MANE Select ENSP00000335384.5:p.Ile170Leu
ENST00000348931.8:c.508A>C ENSP00000335384.5:p.Ile170Leu
ENST00000377940.3:c.442A>C ENSP00000367174.3:p.Ile148Leu
ENST00000583811.5:c.154A>C ENSP00000462463.1:p.Ile52Leu
ENST00000584588.5:c.407-673A>C ENSP00000462067.1:n.407-673A>C
NM_198844.2:c.442A>C NP_942141.2:p.Ile148Leu
NM_199321.2:c.508A>C NP_955353.1:p.Ile170Leu
XM_011524298.1:c.508A>C XP_011522600.1:p.Ile170Leu
XR_002957959.1:n.699A>C
NM_198844.3:c.442A>C NP_942141.2:p.Ile148Leu
NM_199321.3:c.508A>C MANE Select NP_955353.1:p.Ile170Leu