Canonical Allele Identifier: CA290453477

Gene: ZPBP2

Linked Data

• dbSNP Id: rs560605971
• gnomAD v3: 17-39869171-T-G
• gnomAD v4: 17-39869171-T-G
• MyVariant Identifiers: chr17:g.38025424T>G (hg19) ; chr17:g.39869171T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39869171T>G , CM000679.2:g.39869171T>G	GRCh38
NC_000017.10:g.38025424T>G , CM000679.1:g.38025424T>G	GRCh37
NC_000017.9:g.35278950T>G	NCBI36
NG_029104.2:g.18A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.118+557T>G MANE Select	ENSP00000335384.5:n.118+557T>G
ENST00000348931.8:c.118+557T>G	ENSP00000335384.5:n.118+557T>G
ENST00000377940.3:c.52+765T>G	ENSP00000367174.3:n.52+765T>G
ENST00000583811.5:c.52+765T>G	ENSP00000462463.1:n.52+765T>G
ENST00000584588.5:c.118+557T>G	ENSP00000462067.1:n.118+557T>G
NM_198844.2:c.52+765T>G	NP_942141.2:n.52+765T>G
NM_199321.2:c.118+557T>G	NP_955353.1:n.118+557T>G
XM_011524298.1:c.118+557T>G	XP_011522600.1:n.118+557T>G
XR_002957959.1:n.309+557T>G
NM_198844.3:c.52+765T>G	NP_942141.2:n.52+765T>G
NM_199321.3:c.118+557T>G MANE Select	NP_955353.1:n.118+557T>G