Canonical Allele Identifier: CA10649627

Gene: ATPAF2

Linked Data

• ClinVar Variation Id: 322090
• ClinVar RCV Id: RCV000371906
• dbSNP Id: rs886052664
• gnomAD v3: 17-18018212-A-G
• gnomAD v4: 17-18018212-A-G
• MyVariant Identifiers: chr17:g.17921526A>G (hg19) ; chr17:g.18018212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018212A>G , CM000679.2:g.18018212A>G	GRCh38
NC_000017.10:g.17921526A>G , CM000679.1:g.17921526A>G	GRCh37
NC_000017.9:g.17862251A>G	NCBI36
NG_012824.1:g.25955T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.*337T>C MANE Select	ENSP00000417190.2:n.*337T>C
ENST00000462733.5:c.*150-1952T>C	ENSP00000463920.1:n.*150-1952T>C
ENST00000474627.7:c.*337T>C	ENSP00000417190.2:n.*337T>C
ENST00000584205.5:c.*33+6412T>C	ENSP00000462899.1:n.*33+6412T>C
ENST00000585101.5:c.*34-1952T>C	ENSP00000463861.1:n.*34-1952T>C
NM_145691.3:c.*337T>C	NP_663729.1:n.*337T>C
XM_011524062.1:c.732+2911T>C	XP_011522364.1:n.732+2911T>C
XM_011524063.1:c.732+2911T>C	XP_011522365.1:n.732+2911T>C
XM_011524064.1:c.432+2911T>C	XP_011522366.1:n.432+2911T>C
XM_011524065.1:c.733-1952T>C	XP_011522367.1:n.733-1952T>C
XM_011524066.1:c.195+2911T>C	XP_011522368.1:n.195+2911T>C
XM_011524065.2:c.733-1952T>C	XP_011522367.1:n.733-1952T>C
XM_017025303.1:c.433-1952T>C	XP_016880792.1:n.433-1952T>C
XR_001752677.2:n.1604T>C
NM_145691.4:c.*337T>C MANE Select	NP_663729.1:n.*337T>C