Canonical Allele Identifier: CA399279662

Gene: ZPBP2

Linked Data

• MyVariant Identifiers: chr17:g.38028613T>C (hg19) ; chr17:g.39872360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872360T>C , CM000679.2:g.39872360T>C	GRCh38
NC_000017.10:g.38028613T>C , CM000679.1:g.38028613T>C	GRCh37
NC_000017.9:g.35282139T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.497T>C MANE Select	ENSP00000335384.5:p.Val166Ala
ENST00000348931.8:c.497T>C	ENSP00000335384.5:p.Val166Ala
ENST00000377940.3:c.431T>C	ENSP00000367174.3:p.Val144Ala
ENST00000583811.5:c.143T>C	ENSP00000462463.1:p.Val48Ala
ENST00000584588.5:c.407-684T>C	ENSP00000462067.1:n.407-684T>C
NM_198844.2:c.431T>C	NP_942141.2:p.Val144Ala
NM_199321.2:c.497T>C	NP_955353.1:p.Val166Ala
XM_011524298.1:c.497T>C	XP_011522600.1:p.Val166Ala
XR_002957959.1:n.688T>C
NM_198844.3:c.431T>C	NP_942141.2:p.Val144Ala
NM_199321.3:c.497T>C MANE Select	NP_955353.1:p.Val166Ala