Canonical Allele Identifier: CA290455765

Gene: ZPBP2

Linked Data

• dbSNP Id: rs867409751
• gnomAD v4: 17-39872291-C-T
• MyVariant Identifiers: chr17:g.38028544C>T (hg19) ; chr17:g.39872291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872291C>T , CM000679.2:g.39872291C>T	GRCh38
NC_000017.10:g.38028544C>T , CM000679.1:g.38028544C>T	GRCh37
NC_000017.9:g.35282070C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.428C>T MANE Select	ENSP00000335384.5:p.Ser143Leu
ENST00000348931.8:c.428C>T	ENSP00000335384.5:p.Ser143Leu
ENST00000377940.3:c.362C>T	ENSP00000367174.3:p.Ser121Leu
ENST00000583811.5:c.74C>T	ENSP00000462463.1:p.Ser25Leu
ENST00000584588.5:c.406+666C>T	ENSP00000462067.1:n.406+666C>T
NM_198844.2:c.362C>T	NP_942141.2:p.Ser121Leu
NM_199321.2:c.428C>T	NP_955353.1:p.Ser143Leu
XM_011524298.1:c.428C>T	XP_011522600.1:p.Ser143Leu
XR_002957959.1:n.619C>T
NM_198844.3:c.362C>T	NP_942141.2:p.Ser121Leu
NM_199321.3:c.428C>T MANE Select	NP_955353.1:p.Ser143Leu