Canonical Allele Identifier: CA1536339

Gene: NBAS

Linked Data

• dbSNP Id: rs747173396
• ExAC: 2:15564518 C / T
• gnomAD v2: 2-15564518-C-T
• gnomAD v3: 2-15424394-C-T
• gnomAD v4: 2-15424394-C-T
• MyVariant Identifiers: chr2:g.15564518C>T (hg19) ; chr2:g.15424394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424394C>T , CM000664.2:g.15424394C>T	GRCh38
NC_000002.11:g.15564518C>T , CM000664.1:g.15564518C>T	GRCh37
NC_000002.10:g.15481969C>T	NCBI36
NG_032964.1:g.141955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.595G>A
ENST00000700062.1:c.595G>A
ENST00000700065.1:n.2511G>A
ENST00000700066.1:c.2015G>A	ENSP00000514780.1:p.Arg672Lys
ENST00000281513.10:c.2498G>A MANE Select	ENSP00000281513.5:p.Arg833Lys
ENST00000281513.9:c.2498G>A	ENSP00000281513.5:p.Arg833Lys
ENST00000442506.5:c.1G>A
NM_015909.3:c.2498G>A	NP_056993.2:p.Arg833Lys
NR_052013.2:n.2542G>A
XM_011510357.1:c.2369G>A	XP_011508659.1:p.Arg790Lys
XM_011510358.1:c.2498G>A	XP_011508660.1:p.Arg833Lys
XM_011510359.1:c.1859G>A	XP_011508661.1:p.Arg620Lys
XM_011510360.1:c.299G>A	XP_011508662.1:p.Arg100Lys
XM_011510361.1:c.290G>A	XP_011508663.1:p.Arg97Lys
XM_011510357.2:c.2369G>A	XP_011508659.1:p.Arg790Lys
XM_011510358.2:c.2498G>A	XP_011508660.1:p.Arg833Lys
XM_011510360.2:c.299G>A	XP_011508662.1:p.Arg100Lys
XM_011510361.2:c.290G>A	XP_011508663.1:p.Arg97Lys
XM_017004317.1:c.2498G>A	XP_016859806.1:p.Arg833Lys
XM_024452961.1:c.1859G>A	XP_024308729.1:p.Arg620Lys
NM_015909.4:c.2498G>A MANE Select	NP_056993.2:p.Arg833Lys
NR_052013.3:n.2528G>A