Canonical Allele Identifier: CA345889068

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564453G>T (hg19) ; chr2:g.15424329G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424329G>T , CM000664.2:g.15424329G>T	GRCh38
NC_000002.11:g.15564453G>T , CM000664.1:g.15564453G>T	GRCh37
NC_000002.10:g.15481904G>T	NCBI36
NG_032964.1:g.142020C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.660C>A
ENST00000700062.1:c.660C>A
ENST00000700065.1:n.2576C>A
ENST00000700066.1:c.2080C>A	ENSP00000514780.1:p.His694Asn
ENST00000281513.10:c.2563C>A MANE Select	ENSP00000281513.5:p.His855Asn
ENST00000281513.9:c.2563C>A	ENSP00000281513.5:p.His855Asn
ENST00000441755.5:c.64C>A	ENSP00000396501.1:p.His22Asn
ENST00000442506.5:c.66C>A
NM_015909.3:c.2563C>A	NP_056993.2:p.His855Asn
NR_052013.2:n.2607C>A
XM_011510357.1:c.2434C>A	XP_011508659.1:p.His812Asn
XM_011510358.1:c.2563C>A	XP_011508660.1:p.His855Asn
XM_011510359.1:c.1924C>A	XP_011508661.1:p.His642Asn
XM_011510360.1:c.364C>A	XP_011508662.1:p.His122Asn
XM_011510361.1:c.355C>A	XP_011508663.1:p.His119Asn
XM_011510357.2:c.2434C>A	XP_011508659.1:p.His812Asn
XM_011510358.2:c.2563C>A	XP_011508660.1:p.His855Asn
XM_011510360.2:c.364C>A	XP_011508662.1:p.His122Asn
XM_011510361.2:c.355C>A	XP_011508663.1:p.His119Asn
XM_017004317.1:c.2563C>A	XP_016859806.1:p.His855Asn
XM_024452961.1:c.1924C>A	XP_024308729.1:p.His642Asn
NM_015909.4:c.2563C>A MANE Select	NP_056993.2:p.His855Asn
NR_052013.3:n.2593C>A