Canonical Allele Identifier: CA399280234

Gene: ZPBP2

Linked Data

• dbSNP Id: rs772544617
• gnomAD v2: 17-38028717-C-T
• gnomAD v4: 17-39872464-C-T
• MyVariant Identifiers: chr17:g.38028717C>T (hg19) ; chr17:g.39872464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872464C>T , CM000679.2:g.39872464C>T	GRCh38
NC_000017.10:g.38028717C>T , CM000679.1:g.38028717C>T	GRCh37
NC_000017.9:g.35282243C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.601C>T MANE Select	ENSP00000335384.5:p.His201Tyr
ENST00000348931.8:c.601C>T	ENSP00000335384.5:p.His201Tyr
ENST00000377940.3:c.535C>T	ENSP00000367174.3:p.His179Tyr
ENST00000583811.5:c.247C>T	ENSP00000462463.1:p.His83Tyr
ENST00000584588.5:c.407-580C>T	ENSP00000462067.1:n.407-580C>T
NM_198844.2:c.535C>T	NP_942141.2:p.His179Tyr
NM_199321.2:c.601C>T	NP_955353.1:p.His201Tyr
XM_011524298.1:c.601C>T	XP_011522600.1:p.His201Tyr
XR_002957959.1:n.792C>T
NM_198844.3:c.535C>T	NP_942141.2:p.His179Tyr
NM_199321.3:c.601C>T MANE Select	NP_955353.1:p.His201Tyr