Canonical Allele Identifier: CA5524744

Gene: DNA2

Linked Data

• ClinVar Variation Id: 387452
• ClinVar RCV Id: RCV000432530 ; RCV002059771
• dbSNP Id: rs371684850
• ExAC: 10:70179641 C / T
• gnomAD v2: 10-70179641-C-T
• gnomAD v3: 10-68419884-C-T
• gnomAD v4: 10-68419884-C-T
• MyVariant Identifiers: chr10:g.70179641C>T (hg19) ; chr10:g.68419884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68419884C>T , CM000672.2:g.68419884C>T	GRCh38
NC_000010.10:g.70179641C>T , CM000672.1:g.70179641C>T	GRCh37
NC_000010.9:g.69849647C>T	NCBI36
NG_034247.1:g.57090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358410.8:c.2706G>A MANE Select	ENSP00000351185.3:p.Ala902=
ENST00000358410.7:c.2706G>A	ENSP00000351185.3:p.Ala902=
ENST00000399179.6:c.*527G>A	ENSP00000382132.3:n.*527G>A
ENST00000399180.3:c.*527G>A	ENSP00000382133.3:n.*527G>A
ENST00000440722.2:c.670G>A
ENST00000551118.6:c.1992G>A	ENSP00000450393.3:p.Ala664=
NM_001080449.2:c.2706G>A	NP_001073918.2:p.Ala902=
NR_102264.1:n.2680G>A
XM_006717680.2:c.2796G>A	XP_006717743.1:p.Ala932=
XM_011539416.1:c.*43G>A	XP_011537718.1:n.*43G>A
XM_011539417.1:c.1626G>A	XP_011537719.1:p.Ala542=
XM_006717680.3:c.2796G>A	XP_006717743.1:p.Ala932=
XM_017015799.1:c.2034G>A	XP_016871288.1:p.Ala678=
NM_001080449.3:c.2706G>A MANE Select	NP_001073918.2:p.Ala902=
NR_102264.2:n.2680G>A