Canonical Allele Identifier: CA399279746

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1354646662
• gnomAD v2: 17-38028629-G-C
• gnomAD v3: 17-39872376-G-C
• gnomAD v4: 17-39872376-G-C
• MyVariant Identifiers: chr17:g.38028629G>C (hg19) ; chr17:g.39872376G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872376G>C , CM000679.2:g.39872376G>C	GRCh38
NC_000017.10:g.38028629G>C , CM000679.1:g.38028629G>C	GRCh37
NC_000017.9:g.35282155G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.513G>C MANE Select	ENSP00000335384.5:p.Leu171Phe
ENST00000348931.8:c.513G>C	ENSP00000335384.5:p.Leu171Phe
ENST00000377940.3:c.447G>C	ENSP00000367174.3:p.Leu149Phe
ENST00000583811.5:c.159G>C	ENSP00000462463.1:p.Leu53Phe
ENST00000584588.5:c.407-668G>C	ENSP00000462067.1:n.407-668G>C
NM_198844.2:c.447G>C	NP_942141.2:p.Leu149Phe
NM_199321.2:c.513G>C	NP_955353.1:p.Leu171Phe
XM_011524298.1:c.513G>C	XP_011522600.1:p.Leu171Phe
XR_002957959.1:n.704G>C
NM_198844.3:c.447G>C	NP_942141.2:p.Leu149Phe
NM_199321.3:c.513G>C MANE Select	NP_955353.1:p.Leu171Phe