Canonical Allele Identifier: CA8535971

Gene: ZPBP2

Linked Data

• ClinVar Variation Id: 781283
• ClinVar RCV Id: RCV000962499
• dbSNP Id: rs61737283
• ExAC: 17:38028635 T / C
• gnomAD v2: 17-38028635-T-C
• gnomAD v3: 17-39872382-T-C
• gnomAD v4: 17-39872382-T-C
• MyVariant Identifiers: chr17:g.38028635T>C (hg19) ; chr17:g.39872382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872382T>C , CM000679.2:g.39872382T>C	GRCh38
NC_000017.10:g.38028635T>C , CM000679.1:g.38028635T>C	GRCh37
NC_000017.9:g.35282161T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.519T>C MANE Select	ENSP00000335384.5:p.Ser173=
ENST00000348931.8:c.519T>C	ENSP00000335384.5:p.Ser173=
ENST00000377940.3:c.453T>C	ENSP00000367174.3:p.Ser151=
ENST00000583811.5:c.165T>C	ENSP00000462463.1:p.Ser55=
ENST00000584588.5:c.407-662T>C	ENSP00000462067.1:n.407-662T>C
NM_198844.2:c.453T>C	NP_942141.2:p.Ser151=
NM_199321.2:c.519T>C	NP_955353.1:p.Ser173=
XM_011524298.1:c.519T>C	XP_011522600.1:p.Ser173=
XR_002957959.1:n.710T>C
NM_198844.3:c.453T>C	NP_942141.2:p.Ser151=
NM_199321.3:c.519T>C MANE Select	NP_955353.1:p.Ser173=