Canonical Allele Identifier: CA345884247

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358968C>T (hg19) ; chr2:g.15218844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218844C>T , CM000664.2:g.15218844C>T	GRCh38
NC_000002.11:g.15358968C>T , CM000664.1:g.15358968C>T	GRCh37
NC_000002.10:g.15276419C>T	NCBI36
NG_032964.1:g.347505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4347G>A
ENST00000700062.1:c.4426+13578G>A
ENST00000700063.1:c.872G>A
ENST00000700064.1:c.2217G>A
ENST00000281513.10:c.6361G>A MANE Select	ENSP00000281513.5:p.Glu2121Lys
ENST00000281513.9:c.6361G>A	ENSP00000281513.5:p.Glu2121Lys
ENST00000417461.5:c.512+13578G>A	ENSP00000392421.1:n.512+13578G>A
ENST00000442506.5:c.3504G>A
NM_015909.3:c.6361G>A	NP_056993.2:p.Glu2121Lys
NR_052013.2:n.6280+13578G>A
XM_011510357.1:c.6232G>A	XP_011508659.1:p.Glu2078Lys
XM_011510358.1:c.6361G>A	XP_011508660.1:p.Glu2121Lys
XM_011510359.1:c.5722G>A	XP_011508661.1:p.Glu1908Lys
XM_011510360.1:c.4162G>A	XP_011508662.1:p.Glu1388Lys
XM_011510361.1:c.4153G>A	XP_011508663.1:p.Glu1385Lys
XM_011510357.2:c.6232G>A	XP_011508659.1:p.Glu2078Lys
XM_011510358.2:c.6361G>A	XP_011508660.1:p.Glu2121Lys
XM_011510360.2:c.4162G>A	XP_011508662.1:p.Glu1388Lys
XM_011510361.2:c.4153G>A	XP_011508663.1:p.Glu1385Lys
XM_017004317.1:c.6361G>A	XP_016859806.1:p.Glu2121Lys
XM_024452961.1:c.5722G>A	XP_024308729.1:p.Glu1908Lys
NM_015909.4:c.6361G>A MANE Select	NP_056993.2:p.Glu2121Lys
NR_052013.3:n.6266+13578G>A