Canonical Allele Identifier: CA288408049

Gene: ATPAF2

Linked Data

• dbSNP Id: rs1006631501
• gnomAD v2: 17-17924381-C-G
• gnomAD v3: 17-18021067-C-G
• gnomAD v4: 17-18021067-C-G
• MyVariant Identifiers: chr17:g.17924381C>G (hg19) ; chr17:g.18021067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021067C>G , CM000679.2:g.18021067C>G	GRCh38
NC_000017.10:g.17924381C>G , CM000679.1:g.17924381C>G	GRCh37
NC_000017.9:g.17865106C>G	NCBI36
NG_012824.1:g.23100G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.732+56G>C MANE Select	ENSP00000417190.2:n.732+56G>C
ENST00000462733.5:c.*149+56G>C	ENSP00000463920.1:n.*149+56G>C
ENST00000465337.2:n.591+56G>C
ENST00000467560.5:n.142+56G>C
ENST00000469327.5:n.642+56G>C
ENST00000474627.7:c.732+56G>C	ENSP00000417190.2:n.732+56G>C
ENST00000488753.1:n.527+56G>C
ENST00000496852.5:n.1237+56G>C
ENST00000581698.1:c.49-2381G>C
ENST00000584205.5:c.*33+3557G>C	ENSP00000462899.1:n.*33+3557G>C
ENST00000585101.5:c.*33+3557G>C	ENSP00000463861.1:n.*33+3557G>C
NM_145691.3:c.732+56G>C	NP_663729.1:n.732+56G>C
XM_005256848.2:c.732+56G>C	XP_005256905.1:n.732+56G>C
XM_011524062.1:c.732+56G>C	XP_011522364.1:n.732+56G>C
XM_011524063.1:c.732+56G>C	XP_011522365.1:n.732+56G>C
XM_011524064.1:c.432+56G>C	XP_011522366.1:n.432+56G>C
XM_011524065.1:c.732+56G>C	XP_011522367.1:n.732+56G>C
XM_011524066.1:c.195+56G>C	XP_011522368.1:n.195+56G>C
XM_005256848.4:c.732+56G>C	XP_005256905.1:n.732+56G>C
XM_011524065.2:c.732+56G>C	XP_011522367.1:n.732+56G>C
XM_017025302.1:c.432+56G>C	XP_016880791.1:n.432+56G>C
XM_017025303.1:c.432+56G>C	XP_016880792.1:n.432+56G>C
XR_001752677.2:n.1129+56G>C
NM_145691.4:c.732+56G>C MANE Select	NP_663729.1:n.732+56G>C