Canonical Allele Identifier: CA345882468

Gene: NBAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1042A>T
ENST00000700062.1:c.1042A>T
ENST00000700065.1:n.2958A>T
ENST00000281513.10:c.2945A>T MANE Select	ENSP00000281513.5:p.Gln982Leu
ENST00000281513.9:c.2945A>T	ENSP00000281513.5:p.Gln982Leu
ENST00000429842.1:c.237A>T
ENST00000441755.5:c.86A>T	ENSP00000396501.1:p.Gln29Leu
ENST00000442506.5:c.88A>T
NM_015909.3:c.2945A>T	NP_056993.2:p.Gln982Leu
NR_052013.2:n.2989A>T
XM_011510357.1:c.2816A>T	XP_011508659.1:p.Gln939Leu
XM_011510358.1:c.2945A>T	XP_011508660.1:p.Gln982Leu
XM_011510359.1:c.2306A>T	XP_011508661.1:p.Gln769Leu
XM_011510360.1:c.746A>T	XP_011508662.1:p.Gln249Leu
XM_011510361.1:c.737A>T	XP_011508663.1:p.Gln246Leu
XM_011510357.2:c.2816A>T	XP_011508659.1:p.Gln939Leu
XM_011510358.2:c.2945A>T	XP_011508660.1:p.Gln982Leu
XM_011510360.2:c.746A>T	XP_011508662.1:p.Gln249Leu
XM_011510361.2:c.737A>T	XP_011508663.1:p.Gln246Leu
XM_017004317.1:c.2945A>T	XP_016859806.1:p.Gln982Leu
XM_024452961.1:c.2306A>T	XP_024308729.1:p.Gln769Leu
NM_015909.4:c.2945A>T MANE Select	NP_056993.2:p.Gln982Leu
NR_052013.3:n.2975A>T