Canonical Allele Identifier: CA424870441

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564460T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424336T>C , CM000664.2:g.15424336T>C	GRCh38
NC_000002.11:g.15564460T>C , CM000664.1:g.15564460T>C	GRCh37
NC_000002.10:g.15481911T>C	NCBI36
NG_032964.1:g.142013A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.653A>G
ENST00000700062.1:c.653A>G
ENST00000700065.1:n.2569A>G
ENST00000700066.1:c.2073A>G	ENSP00000514780.1:p.Glu691=
ENST00000281513.10:c.2556A>G MANE Select	ENSP00000281513.5:p.Glu852=
ENST00000281513.9:c.2556A>G	ENSP00000281513.5:p.Glu852=
ENST00000441755.5:c.57A>G	ENSP00000396501.1:p.Glu19=
ENST00000442506.5:c.59A>G
NM_015909.3:c.2556A>G	NP_056993.2:p.Glu852=
NR_052013.2:n.2600A>G
XM_011510357.1:c.2427A>G	XP_011508659.1:p.Glu809=
XM_011510358.1:c.2556A>G	XP_011508660.1:p.Glu852=
XM_011510359.1:c.1917A>G	XP_011508661.1:p.Glu639=
XM_011510360.1:c.357A>G	XP_011508662.1:p.Glu119=
XM_011510361.1:c.348A>G	XP_011508663.1:p.Glu116=
XM_011510357.2:c.2427A>G	XP_011508659.1:p.Glu809=
XM_011510358.2:c.2556A>G	XP_011508660.1:p.Glu852=
XM_011510360.2:c.357A>G	XP_011508662.1:p.Glu119=
XM_011510361.2:c.348A>G	XP_011508663.1:p.Glu116=
XM_017004317.1:c.2556A>G	XP_016859806.1:p.Glu852=
XM_024452961.1:c.1917A>G	XP_024308729.1:p.Glu639=
NM_015909.4:c.2556A>G MANE Select	NP_056993.2:p.Glu852=
NR_052013.3:n.2586A>G