Canonical Allele Identifier: CA399280054

Gene: ZPBP2

Linked Data

• MyVariant Identifiers: chr17:g.38028694A>T (hg19) ; chr17:g.39872441A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872441A>T , CM000679.2:g.39872441A>T	GRCh38
NC_000017.10:g.38028694A>T , CM000679.1:g.38028694A>T	GRCh37
NC_000017.9:g.35282220A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.578A>T MANE Select	ENSP00000335384.5:p.Glu193Val
ENST00000348931.8:c.578A>T	ENSP00000335384.5:p.Glu193Val
ENST00000377940.3:c.512A>T	ENSP00000367174.3:p.Glu171Val
ENST00000583811.5:c.224A>T	ENSP00000462463.1:p.Glu75Val
ENST00000584588.5:c.407-603A>T	ENSP00000462067.1:n.407-603A>T
NM_198844.2:c.512A>T	NP_942141.2:p.Glu171Val
NM_199321.2:c.578A>T	NP_955353.1:p.Glu193Val
XM_011524298.1:c.578A>T	XP_011522600.1:p.Glu193Val
XR_002957959.1:n.769A>T
NM_198844.3:c.512A>T	NP_942141.2:p.Glu171Val
NM_199321.3:c.578A>T MANE Select	NP_955353.1:p.Glu193Val