Canonical Allele Identifier: CA345890131

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564554A>C (hg19) ; chr2:g.15424430A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424430A>C , CM000664.2:g.15424430A>C	GRCh38
NC_000002.11:g.15564554A>C , CM000664.1:g.15564554A>C	GRCh37
NC_000002.10:g.15482005A>C	NCBI36
NG_032964.1:g.141919T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.559T>G
ENST00000700062.1:c.559T>G
ENST00000700065.1:n.2475T>G
ENST00000700066.1:c.1979T>G	ENSP00000514780.1:p.Phe660Cys
ENST00000281513.10:c.2462T>G MANE Select	ENSP00000281513.5:p.Phe821Cys
ENST00000281513.9:c.2462T>G	ENSP00000281513.5:p.Phe821Cys
NM_015909.3:c.2462T>G	NP_056993.2:p.Phe821Cys
NR_052013.2:n.2506T>G
XM_011510357.1:c.2333T>G	XP_011508659.1:p.Phe778Cys
XM_011510358.1:c.2462T>G	XP_011508660.1:p.Phe821Cys
XM_011510359.1:c.1823T>G	XP_011508661.1:p.Phe608Cys
XM_011510360.1:c.263T>G	XP_011508662.1:p.Phe88Cys
XM_011510361.1:c.254T>G	XP_011508663.1:p.Phe85Cys
XM_011510357.2:c.2333T>G	XP_011508659.1:p.Phe778Cys
XM_011510358.2:c.2462T>G	XP_011508660.1:p.Phe821Cys
XM_011510360.2:c.263T>G	XP_011508662.1:p.Phe88Cys
XM_011510361.2:c.254T>G	XP_011508663.1:p.Phe85Cys
XM_017004317.1:c.2462T>G	XP_016859806.1:p.Phe821Cys
XM_024452961.1:c.1823T>G	XP_024308729.1:p.Phe608Cys
NM_015909.4:c.2462T>G MANE Select	NP_056993.2:p.Phe821Cys
NR_052013.3:n.2492T>G