Canonical Allele Identifier: CA424866921

Gene: NBAS

Linked Data

• ClinVar Variation Id: 2035428
• ClinVar RCV Id: RCV002890028
• MyVariant Identifiers: chr2:g.15358936T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218812T>C , CM000664.2:g.15218812T>C	GRCh38
NC_000002.11:g.15358936T>C , CM000664.1:g.15358936T>C	GRCh37
NC_000002.10:g.15276387T>C	NCBI36
NG_032964.1:g.347537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4379A>G
ENST00000700062.1:c.4426+13610A>G
ENST00000700063.1:c.904A>G
ENST00000700064.1:c.2249A>G
ENST00000281513.10:c.6393A>G MANE Select	ENSP00000281513.5:p.Arg2131=
ENST00000281513.9:c.6393A>G	ENSP00000281513.5:p.Arg2131=
ENST00000417461.5:c.512+13610A>G	ENSP00000392421.1:n.512+13610A>G
ENST00000442506.5:c.3536A>G
NM_015909.3:c.6393A>G	NP_056993.2:p.Arg2131=
NR_052013.2:n.6280+13610A>G
XM_011510357.1:c.6264A>G	XP_011508659.1:p.Arg2088=
XM_011510358.1:c.6393A>G	XP_011508660.1:p.Arg2131=
XM_011510359.1:c.5754A>G	XP_011508661.1:p.Arg1918=
XM_011510360.1:c.4194A>G	XP_011508662.1:p.Arg1398=
XM_011510361.1:c.4185A>G	XP_011508663.1:p.Arg1395=
XM_011510357.2:c.6264A>G	XP_011508659.1:p.Arg2088=
XM_011510358.2:c.6393A>G	XP_011508660.1:p.Arg2131=
XM_011510360.2:c.4194A>G	XP_011508662.1:p.Arg1398=
XM_011510361.2:c.4185A>G	XP_011508663.1:p.Arg1395=
XM_017004317.1:c.6393A>G	XP_016859806.1:p.Arg2131=
XM_024452961.1:c.5754A>G	XP_024308729.1:p.Arg1918=
NM_015909.4:c.6393A>G MANE Select	NP_056993.2:p.Arg2131=
NR_052013.3:n.6266+13610A>G