Canonical Allele Identifier: CA8535958

Gene: ZPBP2

Linked Data

• dbSNP Id: rs749757912
• ExAC: 17:38028536 T / C
• gnomAD v2: 17-38028536-T-C
• gnomAD v4: 17-39872283-T-C
• MyVariant Identifiers: chr17:g.38028536T>C (hg19) ; chr17:g.39872283T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872283T>C , CM000679.2:g.39872283T>C	GRCh38
NC_000017.10:g.38028536T>C , CM000679.1:g.38028536T>C	GRCh37
NC_000017.9:g.35282062T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.420T>C MANE Select	ENSP00000335384.5:p.Pro140=
ENST00000348931.8:c.420T>C	ENSP00000335384.5:p.Pro140=
ENST00000377940.3:c.354T>C	ENSP00000367174.3:p.Pro118=
ENST00000583811.5:c.66T>C	ENSP00000462463.1:p.Pro22=
ENST00000584588.5:c.406+658T>C	ENSP00000462067.1:n.406+658T>C
NM_198844.2:c.354T>C	NP_942141.2:p.Pro118=
NM_199321.2:c.420T>C	NP_955353.1:p.Pro140=
XM_011524298.1:c.420T>C	XP_011522600.1:p.Pro140=
XR_002957959.1:n.611T>C
NM_198844.3:c.354T>C	NP_942141.2:p.Pro118=
NM_199321.3:c.420T>C MANE Select	NP_955353.1:p.Pro140=