Canonical Allele Identifier: CA399279967

Gene: ZPBP2

Linked Data

• dbSNP Id: rs2063369582
• gnomAD v4: 17-39872417-C-G
• MyVariant Identifiers: chr17:g.38028670C>G (hg19) ; chr17:g.39872417C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872417C>G , CM000679.2:g.39872417C>G	GRCh38
NC_000017.10:g.38028670C>G , CM000679.1:g.38028670C>G	GRCh37
NC_000017.9:g.35282196C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.554C>G MANE Select	ENSP00000335384.5:p.Pro185Arg
ENST00000348931.8:c.554C>G	ENSP00000335384.5:p.Pro185Arg
ENST00000377940.3:c.488C>G	ENSP00000367174.3:p.Pro163Arg
ENST00000583811.5:c.200C>G	ENSP00000462463.1:p.Pro67Arg
ENST00000584588.5:c.407-627C>G	ENSP00000462067.1:n.407-627C>G
NM_198844.2:c.488C>G	NP_942141.2:p.Pro163Arg
NM_199321.2:c.554C>G	NP_955353.1:p.Pro185Arg
XM_011524298.1:c.554C>G	XP_011522600.1:p.Pro185Arg
XR_002957959.1:n.745C>G
NM_198844.3:c.488C>G	NP_942141.2:p.Pro163Arg
NM_199321.3:c.554C>G MANE Select	NP_955353.1:p.Pro185Arg