Canonical Allele Identifier: CA290455441

Gene: ZPBP2

Linked Data

• dbSNP Id: rs759318483
• gnomAD v2: 17-38028276-G-A
• gnomAD v3: 17-39872023-G-A
• gnomAD v4: 17-39872023-G-A
• MyVariant Identifiers: chr17:g.38028276G>A (hg19) ; chr17:g.39872023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872023G>A , CM000679.2:g.39872023G>A	GRCh38
NC_000017.10:g.38028276G>A , CM000679.1:g.38028276G>A	GRCh37
NC_000017.9:g.35281802G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.407-247G>A MANE Select	ENSP00000335384.5:n.407-247G>A
ENST00000348931.8:c.407-247G>A	ENSP00000335384.5:n.407-247G>A
ENST00000377940.3:c.341-247G>A	ENSP00000367174.3:n.341-247G>A
ENST00000583811.5:c.53-247G>A	ENSP00000462463.1:n.53-247G>A
ENST00000584588.5:c.406+398G>A	ENSP00000462067.1:n.406+398G>A
NM_198844.2:c.341-247G>A	NP_942141.2:n.341-247G>A
NM_199321.2:c.407-247G>A	NP_955353.1:n.407-247G>A
XM_011524298.1:c.407-247G>A	XP_011522600.1:n.407-247G>A
XR_002957959.1:n.598-247G>A
NM_198844.3:c.341-247G>A	NP_942141.2:n.341-247G>A
NM_199321.3:c.407-247G>A MANE Select	NP_955353.1:n.407-247G>A