Canonical Allele Identifier: CA345889741

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564497T>C (hg19) ; chr2:g.15424373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424373T>C , CM000664.2:g.15424373T>C	GRCh38
NC_000002.11:g.15564497T>C , CM000664.1:g.15564497T>C	GRCh37
NC_000002.10:g.15481948T>C	NCBI36
NG_032964.1:g.141976A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.616A>G
ENST00000700062.1:c.616A>G
ENST00000700065.1:n.2532A>G
ENST00000700066.1:c.2036A>G	ENSP00000514780.1:p.Glu679Gly
ENST00000281513.10:c.2519A>G MANE Select	ENSP00000281513.5:p.Glu840Gly
ENST00000281513.9:c.2519A>G	ENSP00000281513.5:p.Glu840Gly
ENST00000441755.5:c.20A>G	ENSP00000396501.1:p.Glu7Gly
ENST00000442506.5:c.22A>G
NM_015909.3:c.2519A>G	NP_056993.2:p.Glu840Gly
NR_052013.2:n.2563A>G
XM_011510357.1:c.2390A>G	XP_011508659.1:p.Glu797Gly
XM_011510358.1:c.2519A>G	XP_011508660.1:p.Glu840Gly
XM_011510359.1:c.1880A>G	XP_011508661.1:p.Glu627Gly
XM_011510360.1:c.320A>G	XP_011508662.1:p.Glu107Gly
XM_011510361.1:c.311A>G	XP_011508663.1:p.Glu104Gly
XM_011510357.2:c.2390A>G	XP_011508659.1:p.Glu797Gly
XM_011510358.2:c.2519A>G	XP_011508660.1:p.Glu840Gly
XM_011510360.2:c.320A>G	XP_011508662.1:p.Glu107Gly
XM_011510361.2:c.311A>G	XP_011508663.1:p.Glu104Gly
XM_017004317.1:c.2519A>G	XP_016859806.1:p.Glu840Gly
XM_024452961.1:c.1880A>G	XP_024308729.1:p.Glu627Gly
NM_015909.4:c.2519A>G MANE Select	NP_056993.2:p.Glu840Gly
NR_052013.3:n.2549A>G