Canonical Allele Identifier: CA345890036

Gene: NBAS

Linked Data

• ClinVar Variation Id: 2574217
• ClinVar RCV Id: RCV003318799
• MyVariant Identifiers: chr2:g.15564534C>G (hg19) ; chr2:g.15424410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424410C>G , CM000664.2:g.15424410C>G	GRCh38
NC_000002.11:g.15564534C>G , CM000664.1:g.15564534C>G	GRCh37
NC_000002.10:g.15481985C>G	NCBI36
NG_032964.1:g.141939G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.579G>C
ENST00000700062.1:c.579G>C
ENST00000700065.1:n.2495G>C
ENST00000700066.1:c.1999G>C	ENSP00000514780.1:p.Glu667Gln
ENST00000281513.10:c.2482G>C MANE Select	ENSP00000281513.5:p.Glu828Gln
ENST00000281513.9:c.2482G>C	ENSP00000281513.5:p.Glu828Gln
NM_015909.3:c.2482G>C	NP_056993.2:p.Glu828Gln
NR_052013.2:n.2526G>C
XM_011510357.1:c.2353G>C	XP_011508659.1:p.Glu785Gln
XM_011510358.1:c.2482G>C	XP_011508660.1:p.Glu828Gln
XM_011510359.1:c.1843G>C	XP_011508661.1:p.Glu615Gln
XM_011510360.1:c.283G>C	XP_011508662.1:p.Glu95Gln
XM_011510361.1:c.274G>C	XP_011508663.1:p.Glu92Gln
XM_011510357.2:c.2353G>C	XP_011508659.1:p.Glu785Gln
XM_011510358.2:c.2482G>C	XP_011508660.1:p.Glu828Gln
XM_011510360.2:c.283G>C	XP_011508662.1:p.Glu95Gln
XM_011510361.2:c.274G>C	XP_011508663.1:p.Glu92Gln
XM_017004317.1:c.2482G>C	XP_016859806.1:p.Glu828Gln
XM_024452961.1:c.1843G>C	XP_024308729.1:p.Glu615Gln
NM_015909.4:c.2482G>C MANE Select	NP_056993.2:p.Glu828Gln
NR_052013.3:n.2512G>C