Canonical Allele Identifier: CA345882283

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542393T>A (hg19) ; chr2:g.15402269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402269T>A , CM000664.2:g.15402269T>A	GRCh38
NC_000002.11:g.15542393T>A , CM000664.1:g.15542393T>A	GRCh37
NC_000002.10:g.15459844T>A	NCBI36
NG_032964.1:g.164080A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1067A>T
ENST00000700062.1:c.1067A>T
ENST00000700065.1:n.2983A>T
ENST00000281513.10:c.2970A>T MANE Select	ENSP00000281513.5:p.Gln990His
ENST00000281513.9:c.2970A>T	ENSP00000281513.5:p.Gln990His
ENST00000429842.1:c.262A>T
ENST00000441755.5:c.111A>T	ENSP00000396501.1:p.Gln37His
ENST00000442506.5:c.113A>T
NM_015909.3:c.2970A>T	NP_056993.2:p.Gln990His
NR_052013.2:n.3014A>T
XM_011510357.1:c.2841A>T	XP_011508659.1:p.Gln947His
XM_011510358.1:c.2970A>T	XP_011508660.1:p.Gln990His
XM_011510359.1:c.2331A>T	XP_011508661.1:p.Gln777His
XM_011510360.1:c.771A>T	XP_011508662.1:p.Gln257His
XM_011510361.1:c.762A>T	XP_011508663.1:p.Gln254His
XM_011510357.2:c.2841A>T	XP_011508659.1:p.Gln947His
XM_011510358.2:c.2970A>T	XP_011508660.1:p.Gln990His
XM_011510360.2:c.771A>T	XP_011508662.1:p.Gln257His
XM_011510361.2:c.762A>T	XP_011508663.1:p.Gln254His
XM_017004317.1:c.2970A>T	XP_016859806.1:p.Gln990His
XM_024452961.1:c.2331A>T	XP_024308729.1:p.Gln777His
NM_015909.4:c.2970A>T MANE Select	NP_056993.2:p.Gln990His
NR_052013.3:n.3000A>T