Canonical Allele Identifier: CA5524940
Gene: DNA2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.68431936C>T
GRCh37 chr10:g.70191693C>T
Revel Score:
ENST00000551118 0.323
ENST00000399180 0.323
ENST00000399179 0.323
ENST00000358410 (MANE Select) 0.323
gnomAD v2:
10:70191693 C / T
gnomAD v3:
10:68431936 C / T
gnomAD v4:
chr10-68431936-C-T
Joint Max Group AF 0.00004183 (NFE)
Genomes Max Group AF 0.00009045 (NFE)
Exomes Max Group AF 0.00003545 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68431936C>T , CM000672.2:g.68431936C>T GRCh38
NC_000010.10:g.70191693C>T , CM000672.1:g.70191693C>T GRCh37
NC_000010.9:g.69861699C>T NCBI36
NG_034247.1:g.45038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358410.8:c.1909G>A MANE Select ENSP00000351185.3:p.Val637Ile
ENST00000358410.7:c.1909G>A ENSP00000351185.3:p.Val637Ile
ENST00000399179.6:c.1909G>A ENSP00000382132.3:p.Val637Ile
ENST00000399180.3:c.1909G>A ENSP00000382133.3:p.Val637Ile
ENST00000551118.6:c.1909G>A ENSP00000450393.3:p.Val637Ile
NM_001080449.2:c.1909G>A NP_001073918.2:p.Val637Ile
NR_102264.1:n.1998G>A
XM_006717680.2:c.1999G>A XP_006717743.1:p.Val667Ile
XM_011539416.1:c.1999G>A XP_011537718.1:p.Val667Ile
XM_011539417.1:c.829G>A XP_011537719.1:p.Val277Ile
XM_011539418.1:c.1999G>A XP_011537720.1:p.Val667Ile
XM_011539419.1:c.1999G>A XP_011537721.1:p.Val667Ile
XM_006717680.3:c.1999G>A XP_006717743.1:p.Val667Ile
XM_017015799.1:c.1237G>A XP_016871288.1:p.Val413Ile
NM_001080449.3:c.1909G>A MANE Select NP_001073918.2:p.Val637Ile
NR_102264.2:n.1998G>A
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