Canonical Allele Identifier: CA399280222

Gene: ZPBP2

Linked Data

• gnomAD v4: 17-39872461-A-G
• MyVariant Identifiers: chr17:g.38028714A>G (hg19) ; chr17:g.39872461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872461A>G , CM000679.2:g.39872461A>G	GRCh38
NC_000017.10:g.38028714A>G , CM000679.1:g.38028714A>G	GRCh37
NC_000017.9:g.35282240A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.598A>G MANE Select	ENSP00000335384.5:p.Ile200Val
ENST00000348931.8:c.598A>G	ENSP00000335384.5:p.Ile200Val
ENST00000377940.3:c.532A>G	ENSP00000367174.3:p.Ile178Val
ENST00000583811.5:c.244A>G	ENSP00000462463.1:p.Ile82Val
ENST00000584588.5:c.407-583A>G	ENSP00000462067.1:n.407-583A>G
NM_198844.2:c.532A>G	NP_942141.2:p.Ile178Val
NM_199321.2:c.598A>G	NP_955353.1:p.Ile200Val
XM_011524298.1:c.598A>G	XP_011522600.1:p.Ile200Val
XR_002957959.1:n.789A>G
NM_198844.3:c.532A>G	NP_942141.2:p.Ile178Val
NM_199321.3:c.598A>G MANE Select	NP_955353.1:p.Ile200Val