Canonical Allele Identifier: CA7172845

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 313277
• ClinVar RCV Id: RCV000312770 ; RCV001094134 ; RCV003910174
• dbSNP Id: rs138511448
• ExAC: 14:50100181 C / A
• gnomAD v2: 14-50100181-C-A
• gnomAD v3: 14-49633463-C-A
• gnomAD v4: 14-49633463-C-A
• MyVariant Identifiers: chr14:g.50100181C>A (hg19) ; chr14:g.49633463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49633463C>A , CM000676.2:g.49633463C>A	GRCh38
NC_000014.8:g.50100181C>A , CM000676.1:g.50100181C>A	GRCh37
NC_000014.7:g.49169931C>A	NCBI36
NG_013070.1:g.6768G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.1687G>T MANE Select	ENSP00000298292.8:p.Ala563Ser
ENST00000298292.12:c.1687G>T	ENSP00000298292.8:p.Ala563Ser
ENST00000406043.3:c.1687G>T	ENSP00000384862.3:p.Ala563Ser
NM_001083908.1:c.1687G>T	NP_001077377.1:p.Ala563Ser
NM_018139.2:c.1687G>T	NP_060609.2:p.Ala563Ser
NM_001083908.2:c.1687G>T	NP_001077377.1:p.Ala563Ser
NM_001378453.1:c.-205+20G>T	NP_001365382.1:n.-205+20G>T
NM_018139.3:c.1687G>T MANE Select	NP_060609.2:p.Ala563Ser