Canonical Allele Identifier: CA398580541

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18038982-C-A
• MyVariant Identifiers: chr17:g.17942296C>A (hg19) ; chr17:g.18038982C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18038982C>A , CM000679.2:g.18038982C>A	GRCh38
NC_000017.10:g.17942296C>A , CM000679.1:g.17942296C>A	GRCh37
NC_000017.9:g.17883021C>A	NCBI36
NG_012824.1:g.5185G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.32G>T MANE Select	ENSP00000417190.2:p.Gly11Val
ENST00000444058.1:c.32G>T	ENSP00000397198.1:p.Gly11Val
ENST00000462733.5:c.32G>T	ENSP00000463920.1:p.Gly11Val
ENST00000474627.7:c.32G>T	ENSP00000417190.2:p.Gly11Val
ENST00000497871.1:n.220G>T
ENST00000577586.5:n.183G>T
ENST00000584205.5:c.32G>T	ENSP00000462899.1:p.Gly11Val
ENST00000585101.5:c.32G>T	ENSP00000463861.1:p.Gly11Val
NM_145691.3:c.32G>T	NP_663729.1:p.Gly11Val
XM_005256848.2:c.32G>T	XP_005256905.1:p.Gly11Val
XM_011524062.1:c.32G>T	XP_011522364.1:p.Gly11Val
XM_011524063.1:c.32G>T	XP_011522365.1:p.Gly11Val
XM_011524064.1:c.-123G>T	XP_011522366.1:n.-123G>T
XM_011524065.1:c.32G>T	XP_011522367.1:p.Gly11Val
XR_934116.1:n.188G>T
XM_005256848.4:c.32G>T	XP_005256905.1:p.Gly11Val
XM_011524065.2:c.32G>T	XP_011522367.1:p.Gly11Val
XM_017025302.1:c.-123G>T	XP_016880791.1:n.-123G>T
XM_017025303.1:c.-123G>T	XP_016880792.1:n.-123G>T
XR_001752677.2:n.187G>T
NM_145691.4:c.32G>T MANE Select	NP_663729.1:p.Gly11Val