Canonical Allele Identifier: CA290453491

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1057251400
• gnomAD v3: 17-39869214-GT-G
• gnomAD v4: 17-39869214-GT-G
• MyVariant Identifiers: chr17:g.38025468del (hg19) ; chr17:g.39869215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39869216del , CM000679.2:g.39869216del	GRCh38
NC_000017.10:g.38025469del , CM000679.1:g.38025469del	GRCh37
NC_000017.9:g.35278995del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.118+602del MANE Select	ENSP00000335384.5:n.118+602del
ENST00000348931.8:c.118+602del	ENSP00000335384.5:n.118+602del
ENST00000377940.3:c.52+810del	ENSP00000367174.3:n.52+810del
ENST00000583811.5:c.52+810del	ENSP00000462463.1:n.52+810del
ENST00000584588.5:c.118+602del	ENSP00000462067.1:n.118+602del
NM_198844.2:c.52+810del	NP_942141.2:n.52+810del
NM_199321.2:c.118+602del	NP_955353.1:n.118+602del
XM_011524298.1:c.118+602del	XP_011522600.1:n.118+602del
XR_002957959.1:n.309+602del
NM_198844.3:c.52+810del	NP_942141.2:n.52+810del
NM_199321.3:c.118+602del MANE Select	NP_955353.1:n.118+602del