Canonical Allele Identifier: CA399279689

Gene: ZPBP2

Linked Data

• gnomAD v4: 17-39872368-A-C
• MyVariant Identifiers: chr17:g.38028621A>C (hg19) ; chr17:g.39872368A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872368A>C , CM000679.2:g.39872368A>C	GRCh38
NC_000017.10:g.38028621A>C , CM000679.1:g.38028621A>C	GRCh37
NC_000017.9:g.35282147A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.505A>C MANE Select	ENSP00000335384.5:p.Lys169Gln
ENST00000348931.8:c.505A>C	ENSP00000335384.5:p.Lys169Gln
ENST00000377940.3:c.439A>C	ENSP00000367174.3:p.Lys147Gln
ENST00000583811.5:c.151A>C	ENSP00000462463.1:p.Lys51Gln
ENST00000584588.5:c.407-676A>C	ENSP00000462067.1:n.407-676A>C
NM_198844.2:c.439A>C	NP_942141.2:p.Lys147Gln
NM_199321.2:c.505A>C	NP_955353.1:p.Lys169Gln
XM_011524298.1:c.505A>C	XP_011522600.1:p.Lys169Gln
XR_002957959.1:n.696A>C
NM_198844.3:c.439A>C	NP_942141.2:p.Lys147Gln
NM_199321.3:c.505A>C MANE Select	NP_955353.1:p.Lys169Gln