Canonical Allele Identifier: CA345882469

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542418T>C (hg19) ; chr2:g.15402294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402294T>C , CM000664.2:g.15402294T>C	GRCh38
NC_000002.11:g.15542418T>C , CM000664.1:g.15542418T>C	GRCh37
NC_000002.10:g.15459869T>C	NCBI36
NG_032964.1:g.164055A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1042A>G
ENST00000700062.1:c.1042A>G
ENST00000700065.1:n.2958A>G
ENST00000281513.10:c.2945A>G MANE Select	ENSP00000281513.5:p.Gln982Arg
ENST00000281513.9:c.2945A>G	ENSP00000281513.5:p.Gln982Arg
ENST00000429842.1:c.237A>G
ENST00000441755.5:c.86A>G	ENSP00000396501.1:p.Gln29Arg
ENST00000442506.5:c.88A>G
NM_015909.3:c.2945A>G	NP_056993.2:p.Gln982Arg
NR_052013.2:n.2989A>G
XM_011510357.1:c.2816A>G	XP_011508659.1:p.Gln939Arg
XM_011510358.1:c.2945A>G	XP_011508660.1:p.Gln982Arg
XM_011510359.1:c.2306A>G	XP_011508661.1:p.Gln769Arg
XM_011510360.1:c.746A>G	XP_011508662.1:p.Gln249Arg
XM_011510361.1:c.737A>G	XP_011508663.1:p.Gln246Arg
XM_011510357.2:c.2816A>G	XP_011508659.1:p.Gln939Arg
XM_011510358.2:c.2945A>G	XP_011508660.1:p.Gln982Arg
XM_011510360.2:c.746A>G	XP_011508662.1:p.Gln249Arg
XM_011510361.2:c.737A>G	XP_011508663.1:p.Gln246Arg
XM_017004317.1:c.2945A>G	XP_016859806.1:p.Gln982Arg
XM_024452961.1:c.2306A>G	XP_024308729.1:p.Gln769Arg
NM_015909.4:c.2945A>G MANE Select	NP_056993.2:p.Gln982Arg
NR_052013.3:n.2975A>G