Canonical Allele Identifier: CA424868962

Gene: NBAS

Linked Data

• dbSNP Id: rs1336660189
• gnomAD v2: 2-15542372-C-T
• gnomAD v4: 2-15402248-C-T
• MyVariant Identifiers: chr2:g.15542372C>T (hg19) ; chr2:g.15402248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402248C>T , CM000664.2:g.15402248C>T	GRCh38
NC_000002.11:g.15542372C>T , CM000664.1:g.15542372C>T	GRCh37
NC_000002.10:g.15459823C>T	NCBI36
NG_032964.1:g.164101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1088G>A
ENST00000700062.1:c.1088G>A
ENST00000700065.1:n.3004G>A
ENST00000281513.10:c.2991G>A MANE Select	ENSP00000281513.5:p.Glu997=
ENST00000281513.9:c.2991G>A	ENSP00000281513.5:p.Glu997=
ENST00000429842.1:c.283G>A
ENST00000441755.5:c.132G>A	ENSP00000396501.1:p.Glu44=
ENST00000442506.5:c.134G>A
NM_015909.3:c.2991G>A	NP_056993.2:p.Glu997=
NR_052013.2:n.3035G>A
XM_011510357.1:c.2862G>A	XP_011508659.1:p.Glu954=
XM_011510358.1:c.2991G>A	XP_011508660.1:p.Glu997=
XM_011510359.1:c.2352G>A	XP_011508661.1:p.Glu784=
XM_011510360.1:c.792G>A	XP_011508662.1:p.Glu264=
XM_011510361.1:c.783G>A	XP_011508663.1:p.Glu261=
XM_011510357.2:c.2862G>A	XP_011508659.1:p.Glu954=
XM_011510358.2:c.2991G>A	XP_011508660.1:p.Glu997=
XM_011510360.2:c.792G>A	XP_011508662.1:p.Glu264=
XM_011510361.2:c.783G>A	XP_011508663.1:p.Glu261=
XM_017004317.1:c.2991G>A	XP_016859806.1:p.Glu997=
XM_024452961.1:c.2352G>A	XP_024308729.1:p.Glu784=
NM_015909.4:c.2991G>A MANE Select	NP_056993.2:p.Glu997=
NR_052013.3:n.3021G>A