Canonical Allele Identifier: CA625946249

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1311749959
• gnomAD v2: 17-38025337-C-T
• gnomAD v3: 17-39869084-C-T
• gnomAD v4: 17-39869084-C-T
• MyVariant Identifiers: chr17:g.38025337C>T (hg19) ; chr17:g.39869084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39869084C>T , CM000679.2:g.39869084C>T	GRCh38
NC_000017.10:g.38025337C>T , CM000679.1:g.38025337C>T	GRCh37
NC_000017.9:g.35278863C>T	NCBI36
NG_029104.2:g.105G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.118+470C>T MANE Select	ENSP00000335384.5:n.118+470C>T
ENST00000348931.8:c.118+470C>T	ENSP00000335384.5:n.118+470C>T
ENST00000377940.3:c.52+678C>T	ENSP00000367174.3:n.52+678C>T
ENST00000583811.5:c.52+678C>T	ENSP00000462463.1:n.52+678C>T
ENST00000584588.5:c.118+470C>T	ENSP00000462067.1:n.118+470C>T
NM_198844.2:c.52+678C>T	NP_942141.2:n.52+678C>T
NM_199321.2:c.118+470C>T	NP_955353.1:n.118+470C>T
XM_011524298.1:c.118+470C>T	XP_011522600.1:n.118+470C>T
XR_002957959.1:n.309+470C>T
NM_198844.3:c.52+678C>T	NP_942141.2:n.52+678C>T
NM_199321.3:c.118+470C>T MANE Select	NP_955353.1:n.118+470C>T