Canonical Allele Identifier: CA399279910

Gene: ZPBP2

Linked Data

• MyVariant Identifiers: chr17:g.38028659T>A (hg19) ; chr17:g.39872406T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872406T>A , CM000679.2:g.39872406T>A	GRCh38
NC_000017.10:g.38028659T>A , CM000679.1:g.38028659T>A	GRCh37
NC_000017.9:g.35282185T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.543T>A MANE Select	ENSP00000335384.5:p.His181Gln
ENST00000348931.8:c.543T>A	ENSP00000335384.5:p.His181Gln
ENST00000377940.3:c.477T>A	ENSP00000367174.3:p.His159Gln
ENST00000583811.5:c.189T>A	ENSP00000462463.1:p.His63Gln
ENST00000584588.5:c.407-638T>A	ENSP00000462067.1:n.407-638T>A
NM_198844.2:c.477T>A	NP_942141.2:p.His159Gln
NM_199321.2:c.543T>A	NP_955353.1:p.His181Gln
XM_011524298.1:c.543T>A	XP_011522600.1:p.His181Gln
XR_002957959.1:n.734T>A
NM_198844.3:c.477T>A	NP_942141.2:p.His159Gln
NM_199321.3:c.543T>A MANE Select	NP_955353.1:p.His181Gln