Canonical Allele Identifier: CA290456065

Gene: ZPBP2

Linked Data

• dbSNP Id: rs137968251
• gnomAD v2: 17-38028889-T-C
• gnomAD v3: 17-39872636-T-C
• gnomAD v4: 17-39872636-T-C
• MyVariant Identifiers: chr17:g.38028889T>C (hg19) ; chr17:g.39872636T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872636T>C , CM000679.2:g.39872636T>C	GRCh38
NC_000017.10:g.38028889T>C , CM000679.1:g.38028889T>C	GRCh37
NC_000017.9:g.35282415T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.625+148T>C MANE Select	ENSP00000335384.5:n.625+148T>C
ENST00000348931.8:c.625+148T>C	ENSP00000335384.5:n.625+148T>C
ENST00000377940.3:c.559+148T>C	ENSP00000367174.3:n.559+148T>C
ENST00000583811.5:c.271+148T>C	ENSP00000462463.1:n.271+148T>C
ENST00000584588.5:c.407-408T>C	ENSP00000462067.1:n.407-408T>C
NM_198844.2:c.559+148T>C	NP_942141.2:n.559+148T>C
NM_199321.2:c.625+148T>C	NP_955353.1:n.625+148T>C
XM_011524298.1:c.625+148T>C	XP_011522600.1:n.625+148T>C
XR_002957959.1:n.816+148T>C
NM_198844.3:c.559+148T>C	NP_942141.2:n.559+148T>C
NM_199321.3:c.625+148T>C MANE Select	NP_955353.1:n.625+148T>C