Canonical Allele Identifier: CA399279796

Gene: ZPBP2

Linked Data

• MyVariant Identifiers: chr17:g.38028639A>T (hg19) ; chr17:g.39872386A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872386A>T , CM000679.2:g.39872386A>T	GRCh38
NC_000017.10:g.38028639A>T , CM000679.1:g.38028639A>T	GRCh37
NC_000017.9:g.35282165A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.523A>T MANE Select	ENSP00000335384.5:p.Ile175Phe
ENST00000348931.8:c.523A>T	ENSP00000335384.5:p.Ile175Phe
ENST00000377940.3:c.457A>T	ENSP00000367174.3:p.Ile153Phe
ENST00000583811.5:c.169A>T	ENSP00000462463.1:p.Ile57Phe
ENST00000584588.5:c.407-658A>T	ENSP00000462067.1:n.407-658A>T
NM_198844.2:c.457A>T	NP_942141.2:p.Ile153Phe
NM_199321.2:c.523A>T	NP_955353.1:p.Ile175Phe
XM_011524298.1:c.523A>T	XP_011522600.1:p.Ile175Phe
XR_002957959.1:n.714A>T
NM_198844.3:c.457A>T	NP_942141.2:p.Ile153Phe
NM_199321.3:c.523A>T MANE Select	NP_955353.1:p.Ile175Phe