Canonical Allele Identifier: CA399279165

Gene: ZPBP2

Linked Data

• gnomAD v4: 17-39872270-C-A
• MyVariant Identifiers: chr17:g.38028523C>A (hg19) ; chr17:g.39872270C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872270C>A , CM000679.2:g.39872270C>A	GRCh38
NC_000017.10:g.38028523C>A , CM000679.1:g.38028523C>A	GRCh37
NC_000017.9:g.35282049C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.407C>A MANE Select	ENSP00000335384.5:p.Ala136Asp
ENST00000348931.8:c.407C>A	ENSP00000335384.5:p.Ala136Asp
ENST00000377940.3:c.341C>A	ENSP00000367174.3:p.Ala114Asp
ENST00000583811.5:c.53C>A	ENSP00000462463.1:p.Ala18Asp
ENST00000584588.5:c.406+645C>A	ENSP00000462067.1:n.406+645C>A
NM_198844.2:c.341C>A	NP_942141.2:p.Ala114Asp
NM_199321.2:c.407C>A	NP_955353.1:p.Ala136Asp
XM_011524298.1:c.407C>A	XP_011522600.1:p.Ala136Asp
XR_002957959.1:n.598C>A
NM_198844.3:c.341C>A	NP_942141.2:p.Ala114Asp
NM_199321.3:c.407C>A MANE Select	NP_955353.1:p.Ala136Asp