Canonical Allele Identifier: CA1536176

Gene: NBAS

Linked Data

• dbSNP Id: rs200459544
• ExAC: 2:15542253 A / T
• gnomAD v2: 2-15542253-A-T
• gnomAD v3: 2-15402129-A-T
• gnomAD v4: 2-15402129-A-T
• MyVariant Identifiers: chr2:g.15542253A>T (hg19) ; chr2:g.15402129A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402129A>T , CM000664.2:g.15402129A>T	GRCh38
NC_000002.11:g.15542253A>T , CM000664.1:g.15542253A>T	GRCh37
NC_000002.10:g.15459704A>T	NCBI36
NG_032964.1:g.164220T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1168+39T>A
ENST00000700062.1:c.1168+39T>A
ENST00000700065.1:n.3084+39T>A
ENST00000281513.10:c.3071+39T>A MANE Select	ENSP00000281513.5:n.3071+39T>A
ENST00000281513.9:c.3071+39T>A	ENSP00000281513.5:n.3071+39T>A
ENST00000429842.1:c.363+39T>A
ENST00000441755.5:c.212+39T>A	ENSP00000396501.1:n.212+39T>A
ENST00000442506.5:c.214+39T>A
NM_015909.3:c.3071+39T>A	NP_056993.2:n.3071+39T>A
NR_052013.2:n.3115+39T>A
XM_011510357.1:c.2942+39T>A	XP_011508659.1:n.2942+39T>A
XM_011510358.1:c.3071+39T>A	XP_011508660.1:n.3071+39T>A
XM_011510359.1:c.2432+39T>A	XP_011508661.1:n.2432+39T>A
XM_011510360.1:c.872+39T>A	XP_011508662.1:n.872+39T>A
XM_011510361.1:c.863+39T>A	XP_011508663.1:n.863+39T>A
XM_011510357.2:c.2942+39T>A	XP_011508659.1:n.2942+39T>A
XM_011510358.2:c.3071+39T>A	XP_011508660.1:n.3071+39T>A
XM_011510360.2:c.872+39T>A	XP_011508662.1:n.872+39T>A
XM_011510361.2:c.863+39T>A	XP_011508663.1:n.863+39T>A
XM_017004317.1:c.3071+39T>A	XP_016859806.1:n.3071+39T>A
XM_024452961.1:c.2432+39T>A	XP_024308729.1:n.2432+39T>A
NM_015909.4:c.3071+39T>A MANE Select	NP_056993.2:n.3071+39T>A
NR_052013.3:n.3101+39T>A