Canonical Allele Identifier: CA1535037

Gene: NBAS

Linked Data

• dbSNP Id: rs771925902
• ExAC: 2:15359005 G / T
• gnomAD v2: 2-15359005-G-T
• gnomAD v4: 2-15218881-G-T
• MyVariant Identifiers: chr2:g.15359005G>T (hg19) ; chr2:g.15218881G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218881G>T , CM000664.2:g.15218881G>T	GRCh38
NC_000002.11:g.15359005G>T , CM000664.1:g.15359005G>T	GRCh37
NC_000002.10:g.15276456G>T	NCBI36
NG_032964.1:g.347468C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4310C>A
ENST00000700062.1:c.4426+13541C>A
ENST00000700063.1:c.835C>A
ENST00000700064.1:c.2180C>A
ENST00000281513.10:c.6324C>A MANE Select	ENSP00000281513.5:p.His2108Gln
ENST00000281513.9:c.6324C>A	ENSP00000281513.5:p.His2108Gln
ENST00000417461.5:c.512+13541C>A	ENSP00000392421.1:n.512+13541C>A
ENST00000442506.5:c.3467C>A
NM_015909.3:c.6324C>A	NP_056993.2:p.His2108Gln
NR_052013.2:n.6280+13541C>A
XM_011510357.1:c.6195C>A	XP_011508659.1:p.His2065Gln
XM_011510358.1:c.6324C>A	XP_011508660.1:p.His2108Gln
XM_011510359.1:c.5685C>A	XP_011508661.1:p.His1895Gln
XM_011510360.1:c.4125C>A	XP_011508662.1:p.His1375Gln
XM_011510361.1:c.4116C>A	XP_011508663.1:p.His1372Gln
XM_011510357.2:c.6195C>A	XP_011508659.1:p.His2065Gln
XM_011510358.2:c.6324C>A	XP_011508660.1:p.His2108Gln
XM_011510360.2:c.4125C>A	XP_011508662.1:p.His1375Gln
XM_011510361.2:c.4116C>A	XP_011508663.1:p.His1372Gln
XM_017004317.1:c.6324C>A	XP_016859806.1:p.His2108Gln
XM_024452961.1:c.5685C>A	XP_024308729.1:p.His1895Gln
NM_015909.4:c.6324C>A MANE Select	NP_056993.2:p.His2108Gln
NR_052013.3:n.6266+13541C>A