Canonical Allele Identifier: CA399280051

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1224941869
• gnomAD v2: 17-38028693-G-A
• gnomAD v4: 17-39872440-G-A
• COSMIC: COSM390112
• MyVariant Identifiers: chr17:g.38028693G>A (hg19) ; chr17:g.39872440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872440G>A , CM000679.2:g.39872440G>A	GRCh38
NC_000017.10:g.38028693G>A , CM000679.1:g.38028693G>A	GRCh37
NC_000017.9:g.35282219G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.577G>A MANE Select	ENSP00000335384.5:p.Glu193Lys
ENST00000348931.8:c.577G>A	ENSP00000335384.5:p.Glu193Lys
ENST00000377940.3:c.511G>A	ENSP00000367174.3:p.Glu171Lys
ENST00000583811.5:c.223G>A	ENSP00000462463.1:p.Glu75Lys
ENST00000584588.5:c.407-604G>A	ENSP00000462067.1:n.407-604G>A
NM_198844.2:c.511G>A	NP_942141.2:p.Glu171Lys
NM_199321.2:c.577G>A	NP_955353.1:p.Glu193Lys
XM_011524298.1:c.577G>A	XP_011522600.1:p.Glu193Lys
XR_002957959.1:n.768G>A
NM_198844.3:c.511G>A	NP_942141.2:p.Glu171Lys
NM_199321.3:c.577G>A MANE Select	NP_955353.1:p.Glu193Lys