Canonical Allele Identifier: CA7173165

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 261021
• ClinVar RCV Id: RCV000253494 ; RCV000792505
• dbSNP Id: rs572322476
• ExAC: 14:50101810 C / G
• gnomAD v2: 14-50101810-C-G
• gnomAD v3: 14-49635092-C-G
• gnomAD v4: 14-49635092-C-G
• MyVariant Identifiers: chr14:g.50101810C>G (hg19) ; chr14:g.49635092C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49635092C>G , CM000676.2:g.49635092C>G	GRCh38
NC_000014.8:g.50101810C>G , CM000676.1:g.50101810C>G	GRCh37
NC_000014.7:g.49171560C>G	NCBI36
NG_013070.1:g.5139G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.58G>C MANE Select	ENSP00000298292.8:p.Val20Leu
ENST00000298292.12:c.58G>C	ENSP00000298292.8:p.Val20Leu
ENST00000406043.3:c.58G>C	ENSP00000384862.3:p.Val20Leu
NM_001083908.1:c.58G>C	NP_001077377.1:p.Val20Leu
NM_018139.2:c.58G>C	NP_060609.2:p.Val20Leu
NM_001083908.2:c.58G>C	NP_001077377.1:p.Val20Leu
NM_018139.3:c.58G>C MANE Select	NP_060609.2:p.Val20Leu