Canonical Allele Identifier: CA399279532

Gene: ZPBP2

Linked Data

• gnomAD v3: 17-39872335-A-G
• gnomAD v4: 17-39872335-A-G
• MyVariant Identifiers: chr17:g.38028588A>G (hg19) ; chr17:g.39872335A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872335A>G , CM000679.2:g.39872335A>G	GRCh38
NC_000017.10:g.38028588A>G , CM000679.1:g.38028588A>G	GRCh37
NC_000017.9:g.35282114A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.472A>G MANE Select	ENSP00000335384.5:p.Arg158Gly
ENST00000348931.8:c.472A>G	ENSP00000335384.5:p.Arg158Gly
ENST00000377940.3:c.406A>G	ENSP00000367174.3:p.Arg136Gly
ENST00000583811.5:c.118A>G	ENSP00000462463.1:p.Arg40Gly
ENST00000584588.5:c.407-709A>G	ENSP00000462067.1:n.407-709A>G
NM_198844.2:c.406A>G	NP_942141.2:p.Arg136Gly
NM_199321.2:c.472A>G	NP_955353.1:p.Arg158Gly
XM_011524298.1:c.472A>G	XP_011522600.1:p.Arg158Gly
XR_002957959.1:n.663A>G
NM_198844.3:c.406A>G	NP_942141.2:p.Arg136Gly
NM_199321.3:c.472A>G MANE Select	NP_955353.1:p.Arg158Gly