Canonical Allele Identifier: CA345883842

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358929C>G (hg19) ; chr2:g.15218805C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218805C>G , CM000664.2:g.15218805C>G	GRCh38
NC_000002.11:g.15358929C>G , CM000664.1:g.15358929C>G	GRCh37
NC_000002.10:g.15276380C>G	NCBI36
NG_032964.1:g.347544G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4386G>C
ENST00000700062.1:c.4426+13617G>C
ENST00000700063.1:c.911G>C
ENST00000700064.1:c.2256G>C
ENST00000281513.10:c.6400G>C MANE Select	ENSP00000281513.5:p.Ala2134Pro
ENST00000281513.9:c.6400G>C	ENSP00000281513.5:p.Ala2134Pro
ENST00000417461.5:c.512+13617G>C	ENSP00000392421.1:n.512+13617G>C
ENST00000442506.5:c.3543G>C
NM_015909.3:c.6400G>C	NP_056993.2:p.Ala2134Pro
NR_052013.2:n.6280+13617G>C
XM_011510357.1:c.6271G>C	XP_011508659.1:p.Ala2091Pro
XM_011510358.1:c.6400G>C	XP_011508660.1:p.Ala2134Pro
XM_011510359.1:c.5761G>C	XP_011508661.1:p.Ala1921Pro
XM_011510360.1:c.4201G>C	XP_011508662.1:p.Ala1401Pro
XM_011510361.1:c.4192G>C	XP_011508663.1:p.Ala1398Pro
XM_011510357.2:c.6271G>C	XP_011508659.1:p.Ala2091Pro
XM_011510358.2:c.6400G>C	XP_011508660.1:p.Ala2134Pro
XM_011510360.2:c.4201G>C	XP_011508662.1:p.Ala1401Pro
XM_011510361.2:c.4192G>C	XP_011508663.1:p.Ala1398Pro
XM_017004317.1:c.6400G>C	XP_016859806.1:p.Ala2134Pro
XM_024452961.1:c.5761G>C	XP_024308729.1:p.Ala1921Pro
NM_015909.4:c.6400G>C MANE Select	NP_056993.2:p.Ala2134Pro
NR_052013.3:n.6266+13617G>C