Canonical Allele Identifier: CA499931714

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1487510671
• gnomAD v4: 17-39872364-G-A
• MyVariant Identifiers: chr17:g.38028617G>A (hg19) ; chr17:g.39872364G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872364G>A , CM000679.2:g.39872364G>A	GRCh38
NC_000017.10:g.38028617G>A , CM000679.1:g.38028617G>A	GRCh37
NC_000017.9:g.35282143G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.501G>A MANE Select	ENSP00000335384.5:p.Leu167=
ENST00000348931.8:c.501G>A	ENSP00000335384.5:p.Leu167=
ENST00000377940.3:c.435G>A	ENSP00000367174.3:p.Leu145=
ENST00000583811.5:c.147G>A	ENSP00000462463.1:p.Leu49=
ENST00000584588.5:c.407-680G>A	ENSP00000462067.1:n.407-680G>A
NM_198844.2:c.435G>A	NP_942141.2:p.Leu145=
NM_199321.2:c.501G>A	NP_955353.1:p.Leu167=
XM_011524298.1:c.501G>A	XP_011522600.1:p.Leu167=
XR_002957959.1:n.692G>A
NM_198844.3:c.435G>A	NP_942141.2:p.Leu145=
NM_199321.3:c.501G>A MANE Select	NP_955353.1:p.Leu167=