Canonical Allele Identifier: CA8535967

Gene: ZPBP2

Linked Data

• dbSNP Id: rs375265497
• ExAC: 17:38028608 T / C
• gnomAD v2: 17-38028608-T-C
• gnomAD v3: 17-39872355-T-C
• gnomAD v4: 17-39872355-T-C
• MyVariant Identifiers: chr17:g.38028608T>C (hg19) ; chr17:g.39872355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872355T>C , CM000679.2:g.39872355T>C	GRCh38
NC_000017.10:g.38028608T>C , CM000679.1:g.38028608T>C	GRCh37
NC_000017.9:g.35282134T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.492T>C MANE Select	ENSP00000335384.5:p.Phe164=
ENST00000348931.8:c.492T>C	ENSP00000335384.5:p.Phe164=
ENST00000377940.3:c.426T>C	ENSP00000367174.3:p.Phe142=
ENST00000583811.5:c.138T>C	ENSP00000462463.1:p.Phe46=
ENST00000584588.5:c.407-689T>C	ENSP00000462067.1:n.407-689T>C
NM_198844.2:c.426T>C	NP_942141.2:p.Phe142=
NM_199321.2:c.492T>C	NP_955353.1:p.Phe164=
XM_011524298.1:c.492T>C	XP_011522600.1:p.Phe164=
XR_002957959.1:n.683T>C
NM_198844.3:c.426T>C	NP_942141.2:p.Phe142=
NM_199321.3:c.492T>C MANE Select	NP_955353.1:p.Phe164=