Canonical Allele Identifier: CA625946776

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1598264575
• gnomAD v2: 17-38031733-GA-G
• gnomAD v4: 17-39875480-GA-G
• MyVariant Identifiers: chr17:g.38031734del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39875482del , CM000679.2:g.39875482del	GRCh38
NC_000017.10:g.38031735del , CM000679.1:g.38031735del	GRCh37
NC_000017.9:g.35285261del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.889+48del MANE Select	ENSP00000335384.5:n.889+48del
ENST00000348931.8:c.889+48del	ENSP00000335384.5:n.889+48del
ENST00000377940.3:c.823+48del	ENSP00000367174.3:n.823+48del
ENST00000583811.5:c.535+48del	ENSP00000462463.1:n.535+48del
ENST00000584588.5:c.670+48del	ENSP00000462067.1:n.670+48del
NM_198844.2:c.823+48del	NP_942141.2:n.823+48del
NM_199321.2:c.889+48del	NP_955353.1:n.889+48del
XR_002957959.1:n.1094+48del
NM_198844.3:c.823+48del	NP_942141.2:n.823+48del
NM_199321.3:c.889+48del MANE Select	NP_955353.1:n.889+48del