Canonical Allele Identifier: CA399279680

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1476027887
• gnomAD v3: 17-39872366-A-C
• gnomAD v4: 17-39872366-A-C
• MyVariant Identifiers: chr17:g.38028619A>C (hg19) ; chr17:g.39872366A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872366A>C , CM000679.2:g.39872366A>C	GRCh38
NC_000017.10:g.38028619A>C , CM000679.1:g.38028619A>C	GRCh37
NC_000017.9:g.35282145A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.503A>C MANE Select	ENSP00000335384.5:p.Lys168Thr
ENST00000348931.8:c.503A>C	ENSP00000335384.5:p.Lys168Thr
ENST00000377940.3:c.437A>C	ENSP00000367174.3:p.Lys146Thr
ENST00000583811.5:c.149A>C	ENSP00000462463.1:p.Lys50Thr
ENST00000584588.5:c.407-678A>C	ENSP00000462067.1:n.407-678A>C
NM_198844.2:c.437A>C	NP_942141.2:p.Lys146Thr
NM_199321.2:c.503A>C	NP_955353.1:p.Lys168Thr
XM_011524298.1:c.503A>C	XP_011522600.1:p.Lys168Thr
XR_002957959.1:n.694A>C
NM_198844.3:c.437A>C	NP_942141.2:p.Lys146Thr
NM_199321.3:c.503A>C MANE Select	NP_955353.1:p.Lys168Thr