Canonical Allele Identifier: CA345890184

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564563T>G (hg19) ; chr2:g.15424439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424439T>G , CM000664.2:g.15424439T>G	GRCh38
NC_000002.11:g.15564563T>G , CM000664.1:g.15564563T>G	GRCh37
NC_000002.10:g.15482014T>G	NCBI36
NG_032964.1:g.141910A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.550A>C
ENST00000700062.1:c.550A>C
ENST00000700065.1:n.2466A>C
ENST00000700066.1:c.1970A>C	ENSP00000514780.1:p.Glu657Ala
ENST00000281513.10:c.2453A>C MANE Select	ENSP00000281513.5:p.Glu818Ala
ENST00000281513.9:c.2453A>C	ENSP00000281513.5:p.Glu818Ala
NM_015909.3:c.2453A>C	NP_056993.2:p.Glu818Ala
NR_052013.2:n.2497A>C
XM_011510357.1:c.2324A>C	XP_011508659.1:p.Glu775Ala
XM_011510358.1:c.2453A>C	XP_011508660.1:p.Glu818Ala
XM_011510359.1:c.1814A>C	XP_011508661.1:p.Glu605Ala
XM_011510360.1:c.254A>C	XP_011508662.1:p.Glu85Ala
XM_011510361.1:c.245A>C	XP_011508663.1:p.Glu82Ala
XM_011510357.2:c.2324A>C	XP_011508659.1:p.Glu775Ala
XM_011510358.2:c.2453A>C	XP_011508660.1:p.Glu818Ala
XM_011510360.2:c.254A>C	XP_011508662.1:p.Glu85Ala
XM_011510361.2:c.245A>C	XP_011508663.1:p.Glu82Ala
XM_017004317.1:c.2453A>C	XP_016859806.1:p.Glu818Ala
XM_024452961.1:c.1814A>C	XP_024308729.1:p.Glu605Ala
NM_015909.4:c.2453A>C MANE Select	NP_056993.2:p.Glu818Ala
NR_052013.3:n.2483A>C