Canonical Allele Identifier: CA345884564

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1404398
• ClinVar RCV Id: RCV001901626
• dbSNP Id: rs1331160035
• gnomAD v2: 2-15358996-C-A
• gnomAD v3: 2-15218872-C-A
• gnomAD v4: 2-15218872-C-A
• MyVariant Identifiers: chr2:g.15358996C>A (hg19) ; chr2:g.15218872C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218872C>A , CM000664.2:g.15218872C>A	GRCh38
NC_000002.11:g.15358996C>A , CM000664.1:g.15358996C>A	GRCh37
NC_000002.10:g.15276447C>A	NCBI36
NG_032964.1:g.347477G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4319G>T
ENST00000700062.1:c.4426+13550G>T
ENST00000700063.1:c.844G>T
ENST00000700064.1:c.2189G>T
ENST00000281513.10:c.6333G>T MANE Select	ENSP00000281513.5:p.Gln2111His
ENST00000281513.9:c.6333G>T	ENSP00000281513.5:p.Gln2111His
ENST00000417461.5:c.512+13550G>T	ENSP00000392421.1:n.512+13550G>T
ENST00000442506.5:c.3476G>T
NM_015909.3:c.6333G>T	NP_056993.2:p.Gln2111His
NR_052013.2:n.6280+13550G>T
XM_011510357.1:c.6204G>T	XP_011508659.1:p.Gln2068His
XM_011510358.1:c.6333G>T	XP_011508660.1:p.Gln2111His
XM_011510359.1:c.5694G>T	XP_011508661.1:p.Gln1898His
XM_011510360.1:c.4134G>T	XP_011508662.1:p.Gln1378His
XM_011510361.1:c.4125G>T	XP_011508663.1:p.Gln1375His
XM_011510357.2:c.6204G>T	XP_011508659.1:p.Gln2068His
XM_011510358.2:c.6333G>T	XP_011508660.1:p.Gln2111His
XM_011510360.2:c.4134G>T	XP_011508662.1:p.Gln1378His
XM_011510361.2:c.4125G>T	XP_011508663.1:p.Gln1375His
XM_017004317.1:c.6333G>T	XP_016859806.1:p.Gln2111His
XM_024452961.1:c.5694G>T	XP_024308729.1:p.Gln1898His
NM_015909.4:c.6333G>T MANE Select	NP_056993.2:p.Gln2111His
NR_052013.3:n.6266+13550G>T