Canonical Allele Identifier: CA345883843

Gene: NBAS

Linked Data

• dbSNP Id: rs1386715508
• gnomAD v2: 2-15358929-C-T
• gnomAD v4: 2-15218805-C-T
• MyVariant Identifiers: chr2:g.15358929C>T (hg19) ; chr2:g.15218805C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4386G>A
ENST00000700062.1:c.4426+13617G>A
ENST00000700063.1:c.911G>A
ENST00000700064.1:c.2256G>A
ENST00000281513.10:c.6400G>A MANE Select	ENSP00000281513.5:p.Ala2134Thr
ENST00000281513.9:c.6400G>A	ENSP00000281513.5:p.Ala2134Thr
ENST00000417461.5:c.512+13617G>A	ENSP00000392421.1:n.512+13617G>A
ENST00000442506.5:c.3543G>A
NM_015909.3:c.6400G>A	NP_056993.2:p.Ala2134Thr
NR_052013.2:n.6280+13617G>A
XM_011510357.1:c.6271G>A	XP_011508659.1:p.Ala2091Thr
XM_011510358.1:c.6400G>A	XP_011508660.1:p.Ala2134Thr
XM_011510359.1:c.5761G>A	XP_011508661.1:p.Ala1921Thr
XM_011510360.1:c.4201G>A	XP_011508662.1:p.Ala1401Thr
XM_011510361.1:c.4192G>A	XP_011508663.1:p.Ala1398Thr
XM_011510357.2:c.6271G>A	XP_011508659.1:p.Ala2091Thr
XM_011510358.2:c.6400G>A	XP_011508660.1:p.Ala2134Thr
XM_011510360.2:c.4201G>A	XP_011508662.1:p.Ala1401Thr
XM_011510361.2:c.4192G>A	XP_011508663.1:p.Ala1398Thr
XM_017004317.1:c.6400G>A	XP_016859806.1:p.Ala2134Thr
XM_024452961.1:c.5761G>A	XP_024308729.1:p.Ala1921Thr
NM_015909.4:c.6400G>A MANE Select	NP_056993.2:p.Ala2134Thr
NR_052013.3:n.6266+13617G>A