Canonical Allele Identifier: CA399280025

Gene: ZPBP2

Linked Data

• gnomAD v4: 17-39872428-T-C
• MyVariant Identifiers: chr17:g.38028681T>C (hg19) ; chr17:g.39872428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872428T>C , CM000679.2:g.39872428T>C	GRCh38
NC_000017.10:g.38028681T>C , CM000679.1:g.38028681T>C	GRCh37
NC_000017.9:g.35282207T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.565T>C MANE Select	ENSP00000335384.5:p.Cys189Arg
ENST00000348931.8:c.565T>C	ENSP00000335384.5:p.Cys189Arg
ENST00000377940.3:c.499T>C	ENSP00000367174.3:p.Cys167Arg
ENST00000583811.5:c.211T>C	ENSP00000462463.1:p.Cys71Arg
ENST00000584588.5:c.407-616T>C	ENSP00000462067.1:n.407-616T>C
NM_198844.2:c.499T>C	NP_942141.2:p.Cys167Arg
NM_199321.2:c.565T>C	NP_955353.1:p.Cys189Arg
XM_011524298.1:c.565T>C	XP_011522600.1:p.Cys189Arg
XR_002957959.1:n.756T>C
NM_198844.3:c.499T>C	NP_942141.2:p.Cys167Arg
NM_199321.3:c.565T>C MANE Select	NP_955353.1:p.Cys189Arg