Canonical Allele Identifier: CA7172708

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 313275
• ClinVar RCV Id: RCV000407129 ; RCV001094231
• dbSNP Id: rs140997181
• ExAC: 14:50092386 G / A
• gnomAD v2: 14-50092386-G-A
• gnomAD v3: 14-49625668-G-A
• gnomAD v4: 14-49625668-G-A
• MyVariant Identifiers: chr14:g.50092386G>A (hg19) ; chr14:g.49625668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49625668G>A , CM000676.2:g.49625668G>A	GRCh38
NC_000014.8:g.50092386G>A , CM000676.1:g.50092386G>A	GRCh37
NC_000014.7:g.49162136G>A	NCBI36
NG_013070.1:g.14563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.2388C>T MANE Select	ENSP00000298292.8:p.His796=
ENST00000298292.12:c.2388C>T	ENSP00000298292.8:p.His796=
ENST00000406043.3:c.2244C>T	ENSP00000384862.3:p.His748=
NM_001083908.1:c.2244C>T	NP_001077377.1:p.His748=
NM_018139.2:c.2388C>T	NP_060609.2:p.His796=
NM_001083908.2:c.2244C>T	NP_001077377.1:p.His748=
NM_001378453.1:c.177C>T	NP_001365382.1:p.His59=
NM_018139.3:c.2388C>T MANE Select	NP_060609.2:p.His796=