Canonical Allele Identifier: CA7172941

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 313279
• ClinVar RCV Id: RCV000379966 ; RCV002379191
• dbSNP Id: rs371126037
• ExAC: 14:50100553 C / G
• gnomAD v2: 14-50100553-C-G
• gnomAD v3: 14-49633835-C-G
• gnomAD v4: 14-49633835-C-G
• MyVariant Identifiers: chr14:g.50100553C>G (hg19) ; chr14:g.49633835C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49633835C>G , CM000676.2:g.49633835C>G	GRCh38
NC_000014.8:g.50100553C>G , CM000676.1:g.50100553C>G	GRCh37
NC_000014.7:g.49170303C>G	NCBI36
NG_013070.1:g.6396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.1315G>C MANE Select	ENSP00000298292.8:p.Asp439His
ENST00000298292.12:c.1315G>C	ENSP00000298292.8:p.Asp439His
ENST00000406043.3:c.1315G>C	ENSP00000384862.3:p.Asp439His
NM_001083908.1:c.1315G>C	NP_001077377.1:p.Asp439His
NM_018139.2:c.1315G>C	NP_060609.2:p.Asp439His
NM_001083908.2:c.1315G>C	NP_001077377.1:p.Asp439His
NM_001378453.1:c.-557G>C	NP_001365382.1:n.-557G>C
NM_018139.3:c.1315G>C MANE Select	NP_060609.2:p.Asp439His