Canonical Allele Identifier: CA399280213

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1448066159
• gnomAD v2: 17-38028712-T-C
• gnomAD v4: 17-39872459-T-C
• MyVariant Identifiers: chr17:g.38028712T>C (hg19) ; chr17:g.39872459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872459T>C , CM000679.2:g.39872459T>C	GRCh38
NC_000017.10:g.38028712T>C , CM000679.1:g.38028712T>C	GRCh37
NC_000017.9:g.35282238T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.596T>C MANE Select	ENSP00000335384.5:p.Leu199Pro
ENST00000348931.8:c.596T>C	ENSP00000335384.5:p.Leu199Pro
ENST00000377940.3:c.530T>C	ENSP00000367174.3:p.Leu177Pro
ENST00000583811.5:c.242T>C	ENSP00000462463.1:p.Leu81Pro
ENST00000584588.5:c.407-585T>C	ENSP00000462067.1:n.407-585T>C
NM_198844.2:c.530T>C	NP_942141.2:p.Leu177Pro
NM_199321.2:c.596T>C	NP_955353.1:p.Leu199Pro
XM_011524298.1:c.596T>C	XP_011522600.1:p.Leu199Pro
XR_002957959.1:n.787T>C
NM_198844.3:c.530T>C	NP_942141.2:p.Leu177Pro
NM_199321.3:c.596T>C MANE Select	NP_955353.1:p.Leu199Pro