Canonical Allele Identifier: CA531030348

Gene: NBAS

Linked Data

• dbSNP Id: rs1362849413
• gnomAD v2: 2-15542262-C-T
• gnomAD v3: 2-15402138-C-T
• gnomAD v4: 2-15402138-C-T
• MyVariant Identifiers: chr2:g.15542262C>T (hg19) ; chr2:g.15402138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402138C>T , CM000664.2:g.15402138C>T	GRCh38
NC_000002.11:g.15542262C>T , CM000664.1:g.15542262C>T	GRCh37
NC_000002.10:g.15459713C>T	NCBI36
NG_032964.1:g.164211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1168+30G>A
ENST00000700062.1:c.1168+30G>A
ENST00000700065.1:n.3084+30G>A
ENST00000281513.10:c.3071+30G>A MANE Select	ENSP00000281513.5:n.3071+30G>A
ENST00000281513.9:c.3071+30G>A	ENSP00000281513.5:n.3071+30G>A
ENST00000429842.1:c.363+30G>A
ENST00000441755.5:c.212+30G>A	ENSP00000396501.1:n.212+30G>A
ENST00000442506.5:c.214+30G>A
NM_015909.3:c.3071+30G>A	NP_056993.2:n.3071+30G>A
NR_052013.2:n.3115+30G>A
XM_011510357.1:c.2942+30G>A	XP_011508659.1:n.2942+30G>A
XM_011510358.1:c.3071+30G>A	XP_011508660.1:n.3071+30G>A
XM_011510359.1:c.2432+30G>A	XP_011508661.1:n.2432+30G>A
XM_011510360.1:c.872+30G>A	XP_011508662.1:n.872+30G>A
XM_011510361.1:c.863+30G>A	XP_011508663.1:n.863+30G>A
XM_011510357.2:c.2942+30G>A	XP_011508659.1:n.2942+30G>A
XM_011510358.2:c.3071+30G>A	XP_011508660.1:n.3071+30G>A
XM_011510360.2:c.872+30G>A	XP_011508662.1:n.872+30G>A
XM_011510361.2:c.863+30G>A	XP_011508663.1:n.863+30G>A
XM_017004317.1:c.3071+30G>A	XP_016859806.1:n.3071+30G>A
XM_024452961.1:c.2432+30G>A	XP_024308729.1:n.2432+30G>A
NM_015909.4:c.3071+30G>A MANE Select	NP_056993.2:n.3071+30G>A
NR_052013.3:n.3101+30G>A