Canonical Allele Identifier: CA7173042

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 313283
• ClinVar RCV Id: RCV000391959 ; RCV001094140
• dbSNP Id: rs112700048
• ExAC: 14:50101137 G / T
• gnomAD v2: 14-50101137-G-T
• gnomAD v3: 14-49634419-G-T
• gnomAD v4: 14-49634419-G-T
• MyVariant Identifiers: chr14:g.50101137G>T (hg19) ; chr14:g.49634419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49634419G>T , CM000676.2:g.49634419G>T	GRCh38
NC_000014.8:g.50101137G>T , CM000676.1:g.50101137G>T	GRCh37
NC_000014.7:g.49170887G>T	NCBI36
NG_013070.1:g.5812C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.731C>A MANE Select	ENSP00000298292.8:p.Ala244Glu
ENST00000298292.12:c.731C>A	ENSP00000298292.8:p.Ala244Glu
ENST00000406043.3:c.731C>A	ENSP00000384862.3:p.Ala244Glu
NM_001083908.1:c.731C>A	NP_001077377.1:p.Ala244Glu
NM_018139.2:c.731C>A	NP_060609.2:p.Ala244Glu
NM_001083908.2:c.731C>A	NP_001077377.1:p.Ala244Glu
NM_018139.3:c.731C>A MANE Select	NP_060609.2:p.Ala244Glu