Canonical Allele Identifier: CA345882503

Gene: NBAS

Linked Data

• gnomAD v4: 2-15402300-A-T
• MyVariant Identifiers: chr2:g.15542424A>T (hg19) ; chr2:g.15402300A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402300A>T , CM000664.2:g.15402300A>T	GRCh38
NC_000002.11:g.15542424A>T , CM000664.1:g.15542424A>T	GRCh37
NC_000002.10:g.15459875A>T	NCBI36
NG_032964.1:g.164049T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1036T>A
ENST00000700062.1:c.1036T>A
ENST00000700065.1:n.2952T>A
ENST00000281513.10:c.2939T>A MANE Select	ENSP00000281513.5:p.Leu980Gln
ENST00000281513.9:c.2939T>A	ENSP00000281513.5:p.Leu980Gln
ENST00000429842.1:c.231T>A
ENST00000441755.5:c.80T>A	ENSP00000396501.1:p.Leu27Gln
ENST00000442506.5:c.82T>A
NM_015909.3:c.2939T>A	NP_056993.2:p.Leu980Gln
NR_052013.2:n.2983T>A
XM_011510357.1:c.2810T>A	XP_011508659.1:p.Leu937Gln
XM_011510358.1:c.2939T>A	XP_011508660.1:p.Leu980Gln
XM_011510359.1:c.2300T>A	XP_011508661.1:p.Leu767Gln
XM_011510360.1:c.740T>A	XP_011508662.1:p.Leu247Gln
XM_011510361.1:c.731T>A	XP_011508663.1:p.Leu244Gln
XM_011510357.2:c.2810T>A	XP_011508659.1:p.Leu937Gln
XM_011510358.2:c.2939T>A	XP_011508660.1:p.Leu980Gln
XM_011510360.2:c.740T>A	XP_011508662.1:p.Leu247Gln
XM_011510361.2:c.731T>A	XP_011508663.1:p.Leu244Gln
XM_017004317.1:c.2939T>A	XP_016859806.1:p.Leu980Gln
XM_024452961.1:c.2300T>A	XP_024308729.1:p.Leu767Gln
NM_015909.4:c.2939T>A MANE Select	NP_056993.2:p.Leu980Gln
NR_052013.3:n.2969T>A