Canonical Allele Identifier: CA8536084

Gene: ZPBP2

Linked Data

• dbSNP Id: rs754136948
• ExAC: 17:38031729 G / T
• gnomAD v2: 17-38031729-G-T
• gnomAD v4: 17-39875476-G-T
• MyVariant Identifiers: chr17:g.38031729G>T (hg19) ; chr17:g.39875476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39875476G>T , CM000679.2:g.39875476G>T	GRCh38
NC_000017.10:g.38031729G>T , CM000679.1:g.38031729G>T	GRCh37
NC_000017.9:g.35285255G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.889+42G>T MANE Select	ENSP00000335384.5:n.889+42G>T
ENST00000348931.8:c.889+42G>T	ENSP00000335384.5:n.889+42G>T
ENST00000377940.3:c.823+42G>T	ENSP00000367174.3:n.823+42G>T
ENST00000583811.5:c.535+42G>T	ENSP00000462463.1:n.535+42G>T
ENST00000584588.5:c.670+42G>T	ENSP00000462067.1:n.670+42G>T
NM_198844.2:c.823+42G>T	NP_942141.2:n.823+42G>T
NM_199321.2:c.889+42G>T	NP_955353.1:n.889+42G>T
XR_002957959.1:n.1094+42G>T
NM_198844.3:c.823+42G>T	NP_942141.2:n.823+42G>T
NM_199321.3:c.889+42G>T MANE Select	NP_955353.1:n.889+42G>T