Canonical Allele Identifier: CA399279951

Gene: ZPBP2

Linked Data

• gnomAD v4: 17-39872413-G-C
• MyVariant Identifiers: chr17:g.38028666G>C (hg19) ; chr17:g.39872413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872413G>C , CM000679.2:g.39872413G>C	GRCh38
NC_000017.10:g.38028666G>C , CM000679.1:g.38028666G>C	GRCh37
NC_000017.9:g.35282192G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.550G>C MANE Select	ENSP00000335384.5:p.Glu184Gln
ENST00000348931.8:c.550G>C	ENSP00000335384.5:p.Glu184Gln
ENST00000377940.3:c.484G>C	ENSP00000367174.3:p.Glu162Gln
ENST00000583811.5:c.196G>C	ENSP00000462463.1:p.Glu66Gln
ENST00000584588.5:c.407-631G>C	ENSP00000462067.1:n.407-631G>C
NM_198844.2:c.484G>C	NP_942141.2:p.Glu162Gln
NM_199321.2:c.550G>C	NP_955353.1:p.Glu184Gln
XM_011524298.1:c.550G>C	XP_011522600.1:p.Glu184Gln
XR_002957959.1:n.741G>C
NM_198844.3:c.484G>C	NP_942141.2:p.Glu162Gln
NM_199321.3:c.550G>C MANE Select	NP_955353.1:p.Glu184Gln