Canonical Allele Identifier: CA345883778

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218792-G-T
• COSMIC: COSM6314599
• MyVariant Identifiers: chr2:g.15358916G>T (hg19) ; chr2:g.15218792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218792G>T , CM000664.2:g.15218792G>T	GRCh38
NC_000002.11:g.15358916G>T , CM000664.1:g.15358916G>T	GRCh37
NC_000002.10:g.15276367G>T	NCBI36
NG_032964.1:g.347557C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4399C>A
ENST00000700062.1:c.4426+13630C>A
ENST00000700063.1:c.924C>A
ENST00000700064.1:c.2269C>A
ENST00000281513.10:c.6413C>A MANE Select	ENSP00000281513.5:p.Ala2138Asp
ENST00000281513.9:c.6413C>A	ENSP00000281513.5:p.Ala2138Asp
ENST00000417461.5:c.512+13630C>A	ENSP00000392421.1:n.512+13630C>A
ENST00000442506.5:c.3556C>A
NM_015909.3:c.6413C>A	NP_056993.2:p.Ala2138Asp
NR_052013.2:n.6280+13630C>A
XM_011510357.1:c.6284C>A	XP_011508659.1:p.Ala2095Asp
XM_011510358.1:c.6413C>A	XP_011508660.1:p.Ala2138Asp
XM_011510359.1:c.5774C>A	XP_011508661.1:p.Ala1925Asp
XM_011510360.1:c.4214C>A	XP_011508662.1:p.Ala1405Asp
XM_011510361.1:c.4205C>A	XP_011508663.1:p.Ala1402Asp
XM_011510357.2:c.6284C>A	XP_011508659.1:p.Ala2095Asp
XM_011510358.2:c.6413C>A	XP_011508660.1:p.Ala2138Asp
XM_011510360.2:c.4214C>A	XP_011508662.1:p.Ala1405Asp
XM_011510361.2:c.4205C>A	XP_011508663.1:p.Ala1402Asp
XM_017004317.1:c.6413C>A	XP_016859806.1:p.Ala2138Asp
XM_024452961.1:c.5774C>A	XP_024308729.1:p.Ala1925Asp
NM_015909.4:c.6413C>A MANE Select	NP_056993.2:p.Ala2138Asp
NR_052013.3:n.6266+13630C>A