Canonical Allele Identifier: CA288400051

Gene: ATPAF2

Linked Data

• dbSNP Id: rs1052091218
• gnomAD v2: 17-17921555-G-C
• gnomAD v3: 17-18018241-G-C
• gnomAD v4: 17-18018241-G-C
• MyVariant Identifiers: chr17:g.17921555G>C (hg19) ; chr17:g.18018241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018241G>C , CM000679.2:g.18018241G>C	GRCh38
NC_000017.10:g.17921555G>C , CM000679.1:g.17921555G>C	GRCh37
NC_000017.9:g.17862280G>C	NCBI36
NG_012824.1:g.25926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.*308C>G MANE Select	ENSP00000417190.2:n.*308C>G
ENST00000462733.5:c.*150-1981C>G	ENSP00000463920.1:n.*150-1981C>G
ENST00000474627.7:c.*308C>G	ENSP00000417190.2:n.*308C>G
ENST00000584205.5:c.*33+6383C>G	ENSP00000462899.1:n.*33+6383C>G
ENST00000585101.5:c.*34-1981C>G	ENSP00000463861.1:n.*34-1981C>G
NM_145691.3:c.*308C>G	NP_663729.1:n.*308C>G
XM_011524062.1:c.732+2882C>G	XP_011522364.1:n.732+2882C>G
XM_011524063.1:c.732+2882C>G	XP_011522365.1:n.732+2882C>G
XM_011524064.1:c.432+2882C>G	XP_011522366.1:n.432+2882C>G
XM_011524065.1:c.733-1981C>G	XP_011522367.1:n.733-1981C>G
XM_011524066.1:c.195+2882C>G	XP_011522368.1:n.195+2882C>G
XM_011524065.2:c.733-1981C>G	XP_011522367.1:n.733-1981C>G
XM_017025303.1:c.433-1981C>G	XP_016880792.1:n.433-1981C>G
XR_001752677.2:n.1575C>G
NM_145691.4:c.*308C>G MANE Select	NP_663729.1:n.*308C>G