Canonical Allele Identifier: CA625946605

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1309294303
• gnomAD v2: 17-38029000-T-G
• gnomAD v3: 17-39872747-T-G
• gnomAD v4: 17-39872747-T-G
• MyVariant Identifiers: chr17:g.38029000T>G (hg19) ; chr17:g.39872747T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872747T>G , CM000679.2:g.39872747T>G	GRCh38
NC_000017.10:g.38029000T>G , CM000679.1:g.38029000T>G	GRCh37
NC_000017.9:g.35282526T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.625+259T>G MANE Select	ENSP00000335384.5:n.625+259T>G
ENST00000348931.8:c.625+259T>G	ENSP00000335384.5:n.625+259T>G
ENST00000377940.3:c.559+259T>G	ENSP00000367174.3:n.559+259T>G
ENST00000583811.5:c.271+259T>G	ENSP00000462463.1:n.271+259T>G
ENST00000584588.5:c.407-297T>G	ENSP00000462067.1:n.407-297T>G
NM_198844.2:c.559+259T>G	NP_942141.2:n.559+259T>G
NM_199321.2:c.625+259T>G	NP_955353.1:n.625+259T>G
XM_011524298.1:c.625+259T>G	XP_011522600.1:n.625+259T>G
XR_002957959.1:n.816+259T>G
NM_198844.3:c.559+259T>G	NP_942141.2:n.559+259T>G
NM_199321.3:c.625+259T>G MANE Select	NP_955353.1:n.625+259T>G