Canonical Allele Identifier: CA7172911

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 228602
• ClinVar RCV Id: RCV000214384 ; RCV000319641 ; RCV000983838 ; RCV003907824
• dbSNP Id: rs200121200
• ExAC: 14:50100405 C / T
• gnomAD v2: 14-50100405-C-T
• gnomAD v3: 14-49633687-C-T
• gnomAD v4: 14-49633687-C-T
• MyVariant Identifiers: chr14:g.50100405C>T (hg19) ; chr14:g.49633687C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49633687C>T , CM000676.2:g.49633687C>T	GRCh38
NC_000014.8:g.50100405C>T , CM000676.1:g.50100405C>T	GRCh37
NC_000014.7:g.49170155C>T	NCBI36
NG_013070.1:g.6544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.1463G>A MANE Select	ENSP00000298292.8:p.Gly488Glu
ENST00000298292.12:c.1463G>A	ENSP00000298292.8:p.Gly488Glu
ENST00000406043.3:c.1463G>A	ENSP00000384862.3:p.Gly488Glu
NM_001083908.1:c.1463G>A	NP_001077377.1:p.Gly488Glu
NM_018139.2:c.1463G>A	NP_060609.2:p.Gly488Glu
NM_001083908.2:c.1463G>A	NP_001077377.1:p.Gly488Glu
NM_001378453.1:c.-409G>A	NP_001365382.1:n.-409G>A
NM_018139.3:c.1463G>A MANE Select	NP_060609.2:p.Gly488Glu