Canonical Allele Identifier: CA5524811

Gene: DNA2

Linked Data

• ClinVar Variation Id: 257343
• ClinVar RCV Id: RCV000246790 ; RCV000676508 ; RCV002500877
• dbSNP Id: rs73274785
• ExAC: 10:70182334 G / C
• gnomAD v2: 10-70182334-G-C
• gnomAD v3: 10-68422577-G-C
• gnomAD v4: 10-68422577-G-C
• MyVariant Identifiers: chr10:g.70182334G>C (hg19) ; chr10:g.68422577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68422577G>C , CM000672.2:g.68422577G>C	GRCh38
NC_000010.10:g.70182334G>C , CM000672.1:g.70182334G>C	GRCh37
NC_000010.9:g.69852340G>C	NCBI36
NG_034247.1:g.54397C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358410.8:c.2430C>G MANE Select	ENSP00000351185.3:p.Phe810Leu
ENST00000358410.7:c.2430C>G	ENSP00000351185.3:p.Phe810Leu
ENST00000399179.6:c.*251C>G	ENSP00000382132.3:n.*251C>G
ENST00000399180.3:c.*251C>G	ENSP00000382133.3:n.*251C>G
ENST00000440722.2:c.394C>G
ENST00000551118.6:c.1984-2685C>G	ENSP00000450393.3:n.1984-2685C>G
NM_001080449.2:c.2430C>G	NP_001073918.2:p.Phe810Leu
NR_102264.1:n.2404C>G
XM_006717680.2:c.2520C>G	XP_006717743.1:p.Phe840Leu
XM_011539416.1:c.2520C>G	XP_011537718.1:p.Phe840Leu
XM_011539417.1:c.1350C>G	XP_011537719.1:p.Phe450Leu
XM_006717680.3:c.2520C>G	XP_006717743.1:p.Phe840Leu
XM_017015799.1:c.1758C>G	XP_016871288.1:p.Phe586Leu
NM_001080449.3:c.2430C>G MANE Select	NP_001073918.2:p.Phe810Leu
NR_102264.2:n.2404C>G