Canonical Allele Identifier: CA625037837

Gene: ATPAF2

Linked Data

• dbSNP Id: rs1245011429
• gnomAD v2: 17-17924580-C-G
• gnomAD v4: 17-18021266-C-G
• MyVariant Identifiers: chr17:g.17924580C>G (hg19) ; chr17:g.18021266C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021266C>G , CM000679.2:g.18021266C>G	GRCh38
NC_000017.10:g.17924580C>G , CM000679.1:g.17924580C>G	GRCh37
NC_000017.9:g.17865305C>G	NCBI36
NG_012824.1:g.22901G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.617-28G>C MANE Select	ENSP00000417190.2:n.617-28G>C
ENST00000462733.5:c.*34-28G>C	ENSP00000463920.1:n.*34-28G>C
ENST00000465337.2:n.448G>C
ENST00000469327.5:n.527-28G>C
ENST00000474627.7:c.617-28G>C	ENSP00000417190.2:n.617-28G>C
ENST00000488753.1:n.412-28G>C
ENST00000496852.5:n.1122-28G>C
ENST00000581698.1:c.49-2580G>C
ENST00000584205.5:c.*33+3358G>C	ENSP00000462899.1:n.*33+3358G>C
ENST00000585101.5:c.*33+3358G>C	ENSP00000463861.1:n.*33+3358G>C
NM_145691.3:c.617-28G>C	NP_663729.1:n.617-28G>C
XM_005256848.2:c.617-28G>C	XP_005256905.1:n.617-28G>C
XM_011524062.1:c.617-28G>C	XP_011522364.1:n.617-28G>C
XM_011524063.1:c.617-28G>C	XP_011522365.1:n.617-28G>C
XM_011524064.1:c.317-28G>C	XP_011522366.1:n.317-28G>C
XM_011524065.1:c.617-28G>C	XP_011522367.1:n.617-28G>C
XM_011524066.1:c.80-28G>C	XP_011522368.1:n.80-28G>C
XR_934116.1:n.1015-28G>C
XM_005256848.4:c.617-28G>C	XP_005256905.1:n.617-28G>C
XM_011524065.2:c.617-28G>C	XP_011522367.1:n.617-28G>C
XM_017025302.1:c.317-28G>C	XP_016880791.1:n.317-28G>C
XM_017025303.1:c.317-28G>C	XP_016880792.1:n.317-28G>C
XR_001752677.2:n.1014-28G>C
NM_145691.4:c.617-28G>C MANE Select	NP_663729.1:n.617-28G>C