Canonical Allele Identifier: CA399279219

Gene: ZPBP2

Linked Data

• gnomAD v4: 17-39872281-C-A
• MyVariant Identifiers: chr17:g.38028534C>A (hg19) ; chr17:g.39872281C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872281C>A , CM000679.2:g.39872281C>A	GRCh38
NC_000017.10:g.38028534C>A , CM000679.1:g.38028534C>A	GRCh37
NC_000017.9:g.35282060C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.418C>A MANE Select	ENSP00000335384.5:p.Pro140Thr
ENST00000348931.8:c.418C>A	ENSP00000335384.5:p.Pro140Thr
ENST00000377940.3:c.352C>A	ENSP00000367174.3:p.Pro118Thr
ENST00000583811.5:c.64C>A	ENSP00000462463.1:p.Pro22Thr
ENST00000584588.5:c.406+656C>A	ENSP00000462067.1:n.406+656C>A
NM_198844.2:c.352C>A	NP_942141.2:p.Pro118Thr
NM_199321.2:c.418C>A	NP_955353.1:p.Pro140Thr
XM_011524298.1:c.418C>A	XP_011522600.1:p.Pro140Thr
XR_002957959.1:n.609C>A
NM_198844.3:c.352C>A	NP_942141.2:p.Pro118Thr
NM_199321.3:c.418C>A MANE Select	NP_955353.1:p.Pro140Thr