Canonical Allele Identifier: CA399280071

Gene: ZPBP2

Linked Data

• MyVariant Identifiers: chr17:g.38028696A>G (hg19) ; chr17:g.39872443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872443A>G , CM000679.2:g.39872443A>G	GRCh38
NC_000017.10:g.38028696A>G , CM000679.1:g.38028696A>G	GRCh37
NC_000017.9:g.35282222A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.580A>G MANE Select	ENSP00000335384.5:p.Ile194Val
ENST00000348931.8:c.580A>G	ENSP00000335384.5:p.Ile194Val
ENST00000377940.3:c.514A>G	ENSP00000367174.3:p.Ile172Val
ENST00000583811.5:c.226A>G	ENSP00000462463.1:p.Ile76Val
ENST00000584588.5:c.407-601A>G	ENSP00000462067.1:n.407-601A>G
NM_198844.2:c.514A>G	NP_942141.2:p.Ile172Val
NM_199321.2:c.580A>G	NP_955353.1:p.Ile194Val
XM_011524298.1:c.580A>G	XP_011522600.1:p.Ile194Val
XR_002957959.1:n.771A>G
NM_198844.3:c.514A>G	NP_942141.2:p.Ile172Val
NM_199321.3:c.580A>G MANE Select	NP_955353.1:p.Ile194Val