Canonical Allele Identifier: CA345883745

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358909C>A (hg19) ; chr2:g.15218785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218785C>A , CM000664.2:g.15218785C>A	GRCh38
NC_000002.11:g.15358909C>A , CM000664.1:g.15358909C>A	GRCh37
NC_000002.10:g.15276360C>A	NCBI36
NG_032964.1:g.347564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4406G>T
ENST00000700062.1:c.4426+13637G>T
ENST00000700063.1:c.931G>T
ENST00000700064.1:c.2276G>T
ENST00000281513.10:c.6420G>T MANE Select	ENSP00000281513.5:p.Trp2140Cys
ENST00000281513.9:c.6420G>T	ENSP00000281513.5:p.Trp2140Cys
ENST00000417461.5:c.512+13637G>T	ENSP00000392421.1:n.512+13637G>T
ENST00000442506.5:c.3563G>T
NM_015909.3:c.6420G>T	NP_056993.2:p.Trp2140Cys
NR_052013.2:n.6280+13637G>T
XM_011510357.1:c.6291G>T	XP_011508659.1:p.Trp2097Cys
XM_011510358.1:c.6420G>T	XP_011508660.1:p.Trp2140Cys
XM_011510359.1:c.5781G>T	XP_011508661.1:p.Trp1927Cys
XM_011510360.1:c.4221G>T	XP_011508662.1:p.Trp1407Cys
XM_011510361.1:c.4212G>T	XP_011508663.1:p.Trp1404Cys
XM_011510357.2:c.6291G>T	XP_011508659.1:p.Trp2097Cys
XM_011510358.2:c.6420G>T	XP_011508660.1:p.Trp2140Cys
XM_011510360.2:c.4221G>T	XP_011508662.1:p.Trp1407Cys
XM_011510361.2:c.4212G>T	XP_011508663.1:p.Trp1404Cys
XM_017004317.1:c.6420G>T	XP_016859806.1:p.Trp2140Cys
XM_024452961.1:c.5781G>T	XP_024308729.1:p.Trp1927Cys
NM_015909.4:c.6420G>T MANE Select	NP_056993.2:p.Trp2140Cys
NR_052013.3:n.6266+13637G>T