Canonical Allele Identifier: CA726631828

Gene: ATPAF2

Linked Data

• dbSNP Id: rs1445057580
• gnomAD v3: 17-18021041-A-G
• gnomAD v4: 17-18021041-A-G
• MyVariant Identifiers: chr17:g.17924355A>G (hg19) ; chr17:g.18021041A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021041A>G , CM000679.2:g.18021041A>G	GRCh38
NC_000017.10:g.17924355A>G , CM000679.1:g.17924355A>G	GRCh37
NC_000017.9:g.17865080A>G	NCBI36
NG_012824.1:g.23126T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.732+82T>C MANE Select	ENSP00000417190.2:n.732+82T>C
ENST00000462733.5:c.*149+82T>C	ENSP00000463920.1:n.*149+82T>C
ENST00000465337.2:n.592-43T>C
ENST00000467560.5:n.142+82T>C
ENST00000469327.5:n.642+82T>C
ENST00000474627.7:c.732+82T>C	ENSP00000417190.2:n.732+82T>C
ENST00000488753.1:n.528-43T>C
ENST00000496852.5:n.1237+82T>C
ENST00000581698.1:c.49-2355T>C
ENST00000584205.5:c.*33+3583T>C	ENSP00000462899.1:n.*33+3583T>C
ENST00000585101.5:c.*33+3583T>C	ENSP00000463861.1:n.*33+3583T>C
NM_145691.3:c.732+82T>C	NP_663729.1:n.732+82T>C
XM_005256848.2:c.733-43T>C	XP_005256905.1:n.733-43T>C
XM_011524062.1:c.732+82T>C	XP_011522364.1:n.732+82T>C
XM_011524063.1:c.732+82T>C	XP_011522365.1:n.732+82T>C
XM_011524064.1:c.432+82T>C	XP_011522366.1:n.432+82T>C
XM_011524065.1:c.732+82T>C	XP_011522367.1:n.732+82T>C
XM_011524066.1:c.195+82T>C	XP_011522368.1:n.195+82T>C
XM_005256848.4:c.733-43T>C	XP_005256905.1:n.733-43T>C
XM_011524065.2:c.732+82T>C	XP_011522367.1:n.732+82T>C
XM_017025302.1:c.432+82T>C	XP_016880791.1:n.432+82T>C
XM_017025303.1:c.432+82T>C	XP_016880792.1:n.432+82T>C
XR_001752677.2:n.1129+82T>C
NM_145691.4:c.732+82T>C MANE Select	NP_663729.1:n.732+82T>C