Canonical Allele Identifier: CA345882172

Gene: NBAS

Linked Data

• gnomAD v4: 2-15402249-T-A
• MyVariant Identifiers: chr2:g.15542373T>A (hg19) ; chr2:g.15402249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402249T>A , CM000664.2:g.15402249T>A	GRCh38
NC_000002.11:g.15542373T>A , CM000664.1:g.15542373T>A	GRCh37
NC_000002.10:g.15459824T>A	NCBI36
NG_032964.1:g.164100A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1087A>T
ENST00000700062.1:c.1087A>T
ENST00000700065.1:n.3003A>T
ENST00000281513.10:c.2990A>T MANE Select	ENSP00000281513.5:p.Glu997Val
ENST00000281513.9:c.2990A>T	ENSP00000281513.5:p.Glu997Val
ENST00000429842.1:c.282A>T
ENST00000441755.5:c.131A>T	ENSP00000396501.1:p.Glu44Val
ENST00000442506.5:c.133A>T
NM_015909.3:c.2990A>T	NP_056993.2:p.Glu997Val
NR_052013.2:n.3034A>T
XM_011510357.1:c.2861A>T	XP_011508659.1:p.Glu954Val
XM_011510358.1:c.2990A>T	XP_011508660.1:p.Glu997Val
XM_011510359.1:c.2351A>T	XP_011508661.1:p.Glu784Val
XM_011510360.1:c.791A>T	XP_011508662.1:p.Glu264Val
XM_011510361.1:c.782A>T	XP_011508663.1:p.Glu261Val
XM_011510357.2:c.2861A>T	XP_011508659.1:p.Glu954Val
XM_011510358.2:c.2990A>T	XP_011508660.1:p.Glu997Val
XM_011510360.2:c.791A>T	XP_011508662.1:p.Glu264Val
XM_011510361.2:c.782A>T	XP_011508663.1:p.Glu261Val
XM_017004317.1:c.2990A>T	XP_016859806.1:p.Glu997Val
XM_024452961.1:c.2351A>T	XP_024308729.1:p.Glu784Val
NM_015909.4:c.2990A>T MANE Select	NP_056993.2:p.Glu997Val
NR_052013.3:n.3020A>T