Canonical Allele Identifier: CA399279878

Gene: ZPBP2

Linked Data

• dbSNP Id: rs2063369394
• gnomAD v4: 17-39872401-T-C
• MyVariant Identifiers: chr17:g.38028654T>C (hg19) ; chr17:g.39872401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872401T>C , CM000679.2:g.39872401T>C	GRCh38
NC_000017.10:g.38028654T>C , CM000679.1:g.38028654T>C	GRCh37
NC_000017.9:g.35282180T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.538T>C MANE Select	ENSP00000335384.5:p.Cys180Arg
ENST00000348931.8:c.538T>C	ENSP00000335384.5:p.Cys180Arg
ENST00000377940.3:c.472T>C	ENSP00000367174.3:p.Cys158Arg
ENST00000583811.5:c.184T>C	ENSP00000462463.1:p.Cys62Arg
ENST00000584588.5:c.407-643T>C	ENSP00000462067.1:n.407-643T>C
NM_198844.2:c.472T>C	NP_942141.2:p.Cys158Arg
NM_199321.2:c.538T>C	NP_955353.1:p.Cys180Arg
XM_011524298.1:c.538T>C	XP_011522600.1:p.Cys180Arg
XR_002957959.1:n.729T>C
NM_198844.3:c.472T>C	NP_942141.2:p.Cys158Arg
NM_199321.3:c.538T>C MANE Select	NP_955353.1:p.Cys180Arg