Canonical Allele Identifier: CA345889324

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1347254
• ClinVar RCV Id: RCV002033058
• dbSNP Id: rs1197679051
• gnomAD v2: 2-15564476-T-C
• gnomAD v3: 2-15424352-T-C
• gnomAD v4: 2-15424352-T-C
• MyVariant Identifiers: chr2:g.15564476T>C (hg19) ; chr2:g.15424352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424352T>C , CM000664.2:g.15424352T>C	GRCh38
NC_000002.11:g.15564476T>C , CM000664.1:g.15564476T>C	GRCh37
NC_000002.10:g.15481927T>C	NCBI36
NG_032964.1:g.141997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.637A>G
ENST00000700062.1:c.637A>G
ENST00000700065.1:n.2553A>G
ENST00000700066.1:c.2057A>G	ENSP00000514780.1:p.Gln686Arg
ENST00000281513.10:c.2540A>G MANE Select	ENSP00000281513.5:p.Gln847Arg
ENST00000281513.9:c.2540A>G	ENSP00000281513.5:p.Gln847Arg
ENST00000441755.5:c.41A>G	ENSP00000396501.1:p.Gln14Arg
ENST00000442506.5:c.43A>G
NM_015909.3:c.2540A>G	NP_056993.2:p.Gln847Arg
NR_052013.2:n.2584A>G
XM_011510357.1:c.2411A>G	XP_011508659.1:p.Gln804Arg
XM_011510358.1:c.2540A>G	XP_011508660.1:p.Gln847Arg
XM_011510359.1:c.1901A>G	XP_011508661.1:p.Gln634Arg
XM_011510360.1:c.341A>G	XP_011508662.1:p.Gln114Arg
XM_011510361.1:c.332A>G	XP_011508663.1:p.Gln111Arg
XM_011510357.2:c.2411A>G	XP_011508659.1:p.Gln804Arg
XM_011510358.2:c.2540A>G	XP_011508660.1:p.Gln847Arg
XM_011510360.2:c.341A>G	XP_011508662.1:p.Gln114Arg
XM_011510361.2:c.332A>G	XP_011508663.1:p.Gln111Arg
XM_017004317.1:c.2540A>G	XP_016859806.1:p.Gln847Arg
XM_024452961.1:c.1901A>G	XP_024308729.1:p.Gln634Arg
NM_015909.4:c.2540A>G MANE Select	NP_056993.2:p.Gln847Arg
NR_052013.3:n.2570A>G