Canonical Allele Identifier: CA8535975

Gene: ZPBP2

Linked Data

• dbSNP Id: rs747443917
• ExAC: 17:38028639 AT / A
• gnomAD v2: 17-38028639-AT-A
• gnomAD v4: 17-39872386-AT-A
• MyVariant Identifiers: chr17:g.38028640del (hg19) ; chr17:g.39872387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872389del , CM000679.2:g.39872389del	GRCh38
NC_000017.10:g.38028642del , CM000679.1:g.38028642del	GRCh37
NC_000017.9:g.35282168del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.526del MANE Select	ENSP00000335384.5:p.Ser176LeufsTer8
ENST00000348931.8:c.526del	ENSP00000335384.5:p.Ser176LeufsTer8
ENST00000377940.3:c.460del	ENSP00000367174.3:p.Ser154LeufsTer8
ENST00000583811.5:c.172del	ENSP00000462463.1:p.Ser58LeufsTer8
ENST00000584588.5:c.407-655del	ENSP00000462067.1:n.407-655del
NM_198844.2:c.460del	NP_942141.2:p.Ser154LeufsTer8
NM_199321.2:c.526del	NP_955353.1:p.Ser176LeufsTer8
XM_011524298.1:c.526del	XP_011522600.1:p.Ser176LeufsTer8
XR_002957959.1:n.717del
NM_198844.3:c.460del	NP_942141.2:p.Ser154LeufsTer8
NM_199321.3:c.526del MANE Select	NP_955353.1:p.Ser176LeufsTer8