Canonical Allele Identifier: CA499931712
Gene: ZPBP2 HGNC NCBI

Linked Data

dbSNP Id: rs751383469
MyVariant Identifiers: chr17:g.38028614G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39872361G>T , CM000679.2:g.39872361G>T GRCh38
NC_000017.10:g.38028614G>T , CM000679.1:g.38028614G>T GRCh37
NC_000017.9:g.35282140G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348931.9:c.498G>T MANE Select ENSP00000335384.5:p.Val166=
ENST00000348931.8:c.498G>T ENSP00000335384.5:p.Val166=
ENST00000377940.3:c.432G>T ENSP00000367174.3:p.Val144=
ENST00000583811.5:c.144G>T ENSP00000462463.1:p.Val48=
ENST00000584588.5:c.407-683G>T ENSP00000462067.1:n.407-683G>T
NM_198844.2:c.432G>T NP_942141.2:p.Val144=
NM_199321.2:c.498G>T NP_955353.1:p.Val166=
XM_011524298.1:c.498G>T XP_011522600.1:p.Val166=
XR_002957959.1:n.689G>T
NM_198844.3:c.432G>T NP_942141.2:p.Val144=
NM_199321.3:c.498G>T MANE Select NP_955353.1:p.Val166=