Canonical Allele Identifier: CA399279286

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1398293188
• gnomAD v2: 17-38028546-T-A
• gnomAD v4: 17-39872293-T-A
• MyVariant Identifiers: chr17:g.38028546T>A (hg19) ; chr17:g.39872293T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872293T>A , CM000679.2:g.39872293T>A	GRCh38
NC_000017.10:g.38028546T>A , CM000679.1:g.38028546T>A	GRCh37
NC_000017.9:g.35282072T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.430T>A MANE Select	ENSP00000335384.5:p.Tyr144Asn
ENST00000348931.8:c.430T>A	ENSP00000335384.5:p.Tyr144Asn
ENST00000377940.3:c.364T>A	ENSP00000367174.3:p.Tyr122Asn
ENST00000583811.5:c.76T>A	ENSP00000462463.1:p.Tyr26Asn
ENST00000584588.5:c.406+668T>A	ENSP00000462067.1:n.406+668T>A
NM_198844.2:c.364T>A	NP_942141.2:p.Tyr122Asn
NM_199321.2:c.430T>A	NP_955353.1:p.Tyr144Asn
XM_011524298.1:c.430T>A	XP_011522600.1:p.Tyr144Asn
XR_002957959.1:n.621T>A
NM_198844.3:c.364T>A	NP_942141.2:p.Tyr122Asn
NM_199321.3:c.430T>A MANE Select	NP_955353.1:p.Tyr144Asn