Canonical Allele Identifier: CA345889980

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564528G>T (hg19) ; chr2:g.15424404G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424404G>T , CM000664.2:g.15424404G>T	GRCh38
NC_000002.11:g.15564528G>T , CM000664.1:g.15564528G>T	GRCh37
NC_000002.10:g.15481979G>T	NCBI36
NG_032964.1:g.141945C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.585C>A
ENST00000700062.1:c.585C>A
ENST00000700065.1:n.2501C>A
ENST00000700066.1:c.2005C>A	ENSP00000514780.1:p.Leu669Ile
ENST00000281513.10:c.2488C>A MANE Select	ENSP00000281513.5:p.Leu830Ile
ENST00000281513.9:c.2488C>A	ENSP00000281513.5:p.Leu830Ile
NM_015909.3:c.2488C>A	NP_056993.2:p.Leu830Ile
NR_052013.2:n.2532C>A
XM_011510357.1:c.2359C>A	XP_011508659.1:p.Leu787Ile
XM_011510358.1:c.2488C>A	XP_011508660.1:p.Leu830Ile
XM_011510359.1:c.1849C>A	XP_011508661.1:p.Leu617Ile
XM_011510360.1:c.289C>A	XP_011508662.1:p.Leu97Ile
XM_011510361.1:c.280C>A	XP_011508663.1:p.Leu94Ile
XM_011510357.2:c.2359C>A	XP_011508659.1:p.Leu787Ile
XM_011510358.2:c.2488C>A	XP_011508660.1:p.Leu830Ile
XM_011510360.2:c.289C>A	XP_011508662.1:p.Leu97Ile
XM_011510361.2:c.280C>A	XP_011508663.1:p.Leu94Ile
XM_017004317.1:c.2488C>A	XP_016859806.1:p.Leu830Ile
XM_024452961.1:c.1849C>A	XP_024308729.1:p.Leu617Ile
NM_015909.4:c.2488C>A MANE Select	NP_056993.2:p.Leu830Ile
NR_052013.3:n.2518C>A