Canonical Allele Identifier: CA424870572

Gene: NBAS

Linked Data

• ClinVar Variation Id: 2032897
• ClinVar RCV Id: RCV002885065
• dbSNP Id: rs1414416490
• gnomAD v2: 2-15564532-C-T
• gnomAD v3: 2-15424408-C-T
• gnomAD v4: 2-15424408-C-T
• MyVariant Identifiers: chr2:g.15564532C>T (hg19) ; chr2:g.15424408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424408C>T , CM000664.2:g.15424408C>T	GRCh38
NC_000002.11:g.15564532C>T , CM000664.1:g.15564532C>T	GRCh37
NC_000002.10:g.15481983C>T	NCBI36
NG_032964.1:g.141941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.581G>A
ENST00000700062.1:c.581G>A
ENST00000700065.1:n.2497G>A
ENST00000700066.1:c.2001G>A	ENSP00000514780.1:p.Glu667=
ENST00000281513.10:c.2484G>A MANE Select	ENSP00000281513.5:p.Glu828=
ENST00000281513.9:c.2484G>A	ENSP00000281513.5:p.Glu828=
NM_015909.3:c.2484G>A	NP_056993.2:p.Glu828=
NR_052013.2:n.2528G>A
XM_011510357.1:c.2355G>A	XP_011508659.1:p.Glu785=
XM_011510358.1:c.2484G>A	XP_011508660.1:p.Glu828=
XM_011510359.1:c.1845G>A	XP_011508661.1:p.Glu615=
XM_011510360.1:c.285G>A	XP_011508662.1:p.Glu95=
XM_011510361.1:c.276G>A	XP_011508663.1:p.Glu92=
XM_011510357.2:c.2355G>A	XP_011508659.1:p.Glu785=
XM_011510358.2:c.2484G>A	XP_011508660.1:p.Glu828=
XM_011510360.2:c.285G>A	XP_011508662.1:p.Glu95=
XM_011510361.2:c.276G>A	XP_011508663.1:p.Glu92=
XM_017004317.1:c.2484G>A	XP_016859806.1:p.Glu828=
XM_024452961.1:c.1845G>A	XP_024308729.1:p.Glu615=
NM_015909.4:c.2484G>A MANE Select	NP_056993.2:p.Glu828=
NR_052013.3:n.2514G>A