Canonical Allele Identifier: CA1536335

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1980574
• ClinVar RCV Id: RCV002780281
• dbSNP Id: rs144830164
• ExAC: 2:15564503 G / A
• gnomAD v2: 2-15564503-G-A
• gnomAD v3: 2-15424379-G-A
• gnomAD v4: 2-15424379-G-A
• COSMIC: COSM3971645
• MyVariant Identifiers: chr2:g.15564503G>A (hg19) ; chr2:g.15424379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424379G>A , CM000664.2:g.15424379G>A	GRCh38
NC_000002.11:g.15564503G>A , CM000664.1:g.15564503G>A	GRCh37
NC_000002.10:g.15481954G>A	NCBI36
NG_032964.1:g.141970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.610C>T
ENST00000700062.1:c.610C>T
ENST00000700065.1:n.2526C>T
ENST00000700066.1:c.2030C>T	ENSP00000514780.1:p.Thr677Met
ENST00000281513.10:c.2513C>T MANE Select	ENSP00000281513.5:p.Thr838Met
ENST00000281513.9:c.2513C>T	ENSP00000281513.5:p.Thr838Met
ENST00000441755.5:c.14C>T	ENSP00000396501.1:p.Thr5Met
ENST00000442506.5:c.16C>T
NM_015909.3:c.2513C>T	NP_056993.2:p.Thr838Met
NR_052013.2:n.2557C>T
XM_011510357.1:c.2384C>T	XP_011508659.1:p.Thr795Met
XM_011510358.1:c.2513C>T	XP_011508660.1:p.Thr838Met
XM_011510359.1:c.1874C>T	XP_011508661.1:p.Thr625Met
XM_011510360.1:c.314C>T	XP_011508662.1:p.Thr105Met
XM_011510361.1:c.305C>T	XP_011508663.1:p.Thr102Met
XM_011510357.2:c.2384C>T	XP_011508659.1:p.Thr795Met
XM_011510358.2:c.2513C>T	XP_011508660.1:p.Thr838Met
XM_011510360.2:c.314C>T	XP_011508662.1:p.Thr105Met
XM_011510361.2:c.305C>T	XP_011508663.1:p.Thr102Met
XM_017004317.1:c.2513C>T	XP_016859806.1:p.Thr838Met
XM_024452961.1:c.1874C>T	XP_024308729.1:p.Thr625Met
NM_015909.4:c.2513C>T MANE Select	NP_056993.2:p.Thr838Met
NR_052013.3:n.2543C>T