Canonical Allele Identifier: CA345889938

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564522A>C (hg19) ; chr2:g.15424398A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424398A>C , CM000664.2:g.15424398A>C	GRCh38
NC_000002.11:g.15564522A>C , CM000664.1:g.15564522A>C	GRCh37
NC_000002.10:g.15481973A>C	NCBI36
NG_032964.1:g.141951T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.591T>G
ENST00000700062.1:c.591T>G
ENST00000700065.1:n.2507T>G
ENST00000700066.1:c.2011T>G	ENSP00000514780.1:p.Phe671Val
ENST00000281513.10:c.2494T>G MANE Select	ENSP00000281513.5:p.Phe832Val
ENST00000281513.9:c.2494T>G	ENSP00000281513.5:p.Phe832Val
NM_015909.3:c.2494T>G	NP_056993.2:p.Phe832Val
NR_052013.2:n.2538T>G
XM_011510357.1:c.2365T>G	XP_011508659.1:p.Phe789Val
XM_011510358.1:c.2494T>G	XP_011508660.1:p.Phe832Val
XM_011510359.1:c.1855T>G	XP_011508661.1:p.Phe619Val
XM_011510360.1:c.295T>G	XP_011508662.1:p.Phe99Val
XM_011510361.1:c.286T>G	XP_011508663.1:p.Phe96Val
XM_011510357.2:c.2365T>G	XP_011508659.1:p.Phe789Val
XM_011510358.2:c.2494T>G	XP_011508660.1:p.Phe832Val
XM_011510360.2:c.295T>G	XP_011508662.1:p.Phe99Val
XM_011510361.2:c.286T>G	XP_011508663.1:p.Phe96Val
XM_017004317.1:c.2494T>G	XP_016859806.1:p.Phe832Val
XM_024452961.1:c.1855T>G	XP_024308729.1:p.Phe619Val
NM_015909.4:c.2494T>G MANE Select	NP_056993.2:p.Phe832Val
NR_052013.3:n.2524T>G