Canonical Allele Identifier: CA345882052

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542354T>G (hg19) ; chr2:g.15402230T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402230T>G , CM000664.2:g.15402230T>G	GRCh38
NC_000002.11:g.15542354T>G , CM000664.1:g.15542354T>G	GRCh37
NC_000002.10:g.15459805T>G	NCBI36
NG_032964.1:g.164119A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1106A>C
ENST00000700062.1:c.1106A>C
ENST00000700065.1:n.3022A>C
ENST00000281513.10:c.3009A>C MANE Select	ENSP00000281513.5:p.Glu1003Asp
ENST00000281513.9:c.3009A>C	ENSP00000281513.5:p.Glu1003Asp
ENST00000429842.1:c.301A>C
ENST00000441755.5:c.150A>C	ENSP00000396501.1:p.Glu50Asp
ENST00000442506.5:c.152A>C
NM_015909.3:c.3009A>C	NP_056993.2:p.Glu1003Asp
NR_052013.2:n.3053A>C
XM_011510357.1:c.2880A>C	XP_011508659.1:p.Glu960Asp
XM_011510358.1:c.3009A>C	XP_011508660.1:p.Glu1003Asp
XM_011510359.1:c.2370A>C	XP_011508661.1:p.Glu790Asp
XM_011510360.1:c.810A>C	XP_011508662.1:p.Glu270Asp
XM_011510361.1:c.801A>C	XP_011508663.1:p.Glu267Asp
XM_011510357.2:c.2880A>C	XP_011508659.1:p.Glu960Asp
XM_011510358.2:c.3009A>C	XP_011508660.1:p.Glu1003Asp
XM_011510360.2:c.810A>C	XP_011508662.1:p.Glu270Asp
XM_011510361.2:c.801A>C	XP_011508663.1:p.Glu267Asp
XM_017004317.1:c.3009A>C	XP_016859806.1:p.Glu1003Asp
XM_024452961.1:c.2370A>C	XP_024308729.1:p.Glu790Asp
NM_015909.4:c.3009A>C MANE Select	NP_056993.2:p.Glu1003Asp
NR_052013.3:n.3039A>C