Canonical Allele Identifier: CA399279718

Gene: ZPBP2

Linked Data

• dbSNP Id: rs2063369092
• gnomAD v4: 17-39872371-A-G
• MyVariant Identifiers: chr17:g.38028624A>G (hg19) ; chr17:g.39872371A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872371A>G , CM000679.2:g.39872371A>G	GRCh38
NC_000017.10:g.38028624A>G , CM000679.1:g.38028624A>G	GRCh37
NC_000017.9:g.35282150A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.508A>G MANE Select	ENSP00000335384.5:p.Ile170Val
ENST00000348931.8:c.508A>G	ENSP00000335384.5:p.Ile170Val
ENST00000377940.3:c.442A>G	ENSP00000367174.3:p.Ile148Val
ENST00000583811.5:c.154A>G	ENSP00000462463.1:p.Ile52Val
ENST00000584588.5:c.407-673A>G	ENSP00000462067.1:n.407-673A>G
NM_198844.2:c.442A>G	NP_942141.2:p.Ile148Val
NM_199321.2:c.508A>G	NP_955353.1:p.Ile170Val
XM_011524298.1:c.508A>G	XP_011522600.1:p.Ile170Val
XR_002957959.1:n.699A>G
NM_198844.3:c.442A>G	NP_942141.2:p.Ile148Val
NM_199321.3:c.508A>G MANE Select	NP_955353.1:p.Ile170Val