Canonical Allele Identifier: CA7172703

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 416621
• ClinVar RCV Id: RCV000465216 ; RCV003902711
• dbSNP Id: rs201826641
• ExAC: 14:50092359 T / C
• gnomAD v2: 14-50092359-T-C
• gnomAD v3: 14-49625641-T-C
• gnomAD v4: 14-49625641-T-C
• MyVariant Identifiers: chr14:g.50092359T>C (hg19) ; chr14:g.49625641T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49625641T>C , CM000676.2:g.49625641T>C	GRCh38
NC_000014.8:g.50092359T>C , CM000676.1:g.50092359T>C	GRCh37
NC_000014.7:g.49162109T>C	NCBI36
NG_013070.1:g.14590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.2415A>G MANE Select	ENSP00000298292.8:p.Lys805=
ENST00000298292.12:c.2415A>G	ENSP00000298292.8:p.Lys805=
ENST00000406043.3:c.2271A>G	ENSP00000384862.3:p.Lys757=
NM_001083908.1:c.2271A>G	NP_001077377.1:p.Lys757=
NM_018139.2:c.2415A>G	NP_060609.2:p.Lys805=
NM_001083908.2:c.2271A>G	NP_001077377.1:p.Lys757=
NM_001378453.1:c.204A>G	NP_001365382.1:p.Lys68=
NM_018139.3:c.2415A>G MANE Select	NP_060609.2:p.Lys805=