Canonical Allele Identifier: CA16614527

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 411172
• ClinVar RCV Id: RCV000471836 ; RCV001782957
• dbSNP Id: rs902156961
• gnomAD v2: 14-50100708-T-TCCCC
• gnomAD v3: 14-49633990-T-TCCCC
• gnomAD v4: 14-49633990-T-TCCCC
• MyVariant Identifiers: chr14:g.50100709_50100712dupCCCC (hg19) ; chr14:g.50100708_50100709insCCCC (hg19) ; chr14:g.49633991_49633994dupCCCC (hg38) ; chr14:g.49633990_49633991insCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49633992_49633995dup , CM000676.2:g.49633992_49633995dup	GRCh38
NC_000014.8:g.50100710_50100713dup , CM000676.1:g.50100710_50100713dup	GRCh37
NC_000014.7:g.49170460_49170463dup	NCBI36
NG_013070.1:g.6237_6240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.1156_1159dup MANE Select	ENSP00000298292.8:p.Glu387GlyfsTer?
ENST00000298292.12:c.1156_1159dup	ENSP00000298292.8:p.Glu387GlyfsTer?
ENST00000406043.3:c.1156_1159dup	ENSP00000384862.3:p.Glu387GlyfsTer?
NM_001083908.1:c.1156_1159dup	NP_001077377.1:p.Glu387GlyfsTer?
NM_018139.2:c.1156_1159dup	NP_060609.2:p.Glu387GlyfsTer?
NM_001083908.2:c.1156_1159dup	NP_001077377.1:p.Glu387GlyfsTer?
NM_018139.3:c.1156_1159dup MANE Select	NP_060609.2:p.Glu387GlyfsTer?