Canonical Allele Identifier: CA424870499

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564496C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424372C>T , CM000664.2:g.15424372C>T	GRCh38
NC_000002.11:g.15564496C>T , CM000664.1:g.15564496C>T	GRCh37
NC_000002.10:g.15481947C>T	NCBI36
NG_032964.1:g.141977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.617G>A
ENST00000700062.1:c.617G>A
ENST00000700065.1:n.2533G>A
ENST00000700066.1:c.2037G>A	ENSP00000514780.1:p.Glu679=
ENST00000281513.10:c.2520G>A MANE Select	ENSP00000281513.5:p.Glu840=
ENST00000281513.9:c.2520G>A	ENSP00000281513.5:p.Glu840=
ENST00000441755.5:c.21G>A	ENSP00000396501.1:p.Glu7=
ENST00000442506.5:c.23G>A
NM_015909.3:c.2520G>A	NP_056993.2:p.Glu840=
NR_052013.2:n.2564G>A
XM_011510357.1:c.2391G>A	XP_011508659.1:p.Glu797=
XM_011510358.1:c.2520G>A	XP_011508660.1:p.Glu840=
XM_011510359.1:c.1881G>A	XP_011508661.1:p.Glu627=
XM_011510360.1:c.321G>A	XP_011508662.1:p.Glu107=
XM_011510361.1:c.312G>A	XP_011508663.1:p.Glu104=
XM_011510357.2:c.2391G>A	XP_011508659.1:p.Glu797=
XM_011510358.2:c.2520G>A	XP_011508660.1:p.Glu840=
XM_011510360.2:c.321G>A	XP_011508662.1:p.Glu107=
XM_011510361.2:c.312G>A	XP_011508663.1:p.Glu104=
XM_017004317.1:c.2520G>A	XP_016859806.1:p.Glu840=
XM_024452961.1:c.1881G>A	XP_024308729.1:p.Glu627=
NM_015909.4:c.2520G>A MANE Select	NP_056993.2:p.Glu840=
NR_052013.3:n.2550G>A