Canonical Allele Identifier: CA424870643

Gene: NBAS

Linked Data

• gnomAD v4: 2-15424468-T-C
• MyVariant Identifiers: chr2:g.15564592T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424468T>C , CM000664.2:g.15424468T>C	GRCh38
NC_000002.11:g.15564592T>C , CM000664.1:g.15564592T>C	GRCh37
NC_000002.10:g.15482043T>C	NCBI36
NG_032964.1:g.141881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.521A>G
ENST00000700062.1:c.521A>G
ENST00000700065.1:n.2437A>G
ENST00000700066.1:c.1941A>G	ENSP00000514780.1:p.Arg647=
ENST00000281513.10:c.2424A>G MANE Select	ENSP00000281513.5:p.Arg808=
ENST00000281513.9:c.2424A>G	ENSP00000281513.5:p.Arg808=
NM_015909.3:c.2424A>G	NP_056993.2:p.Arg808=
NR_052013.2:n.2468A>G
XM_011510357.1:c.2295A>G	XP_011508659.1:p.Arg765=
XM_011510358.1:c.2424A>G	XP_011508660.1:p.Arg808=
XM_011510359.1:c.1785A>G	XP_011508661.1:p.Arg595=
XM_011510360.1:c.225A>G	XP_011508662.1:p.Arg75=
XM_011510361.1:c.216A>G	XP_011508663.1:p.Arg72=
XM_011510357.2:c.2295A>G	XP_011508659.1:p.Arg765=
XM_011510358.2:c.2424A>G	XP_011508660.1:p.Arg808=
XM_011510360.2:c.225A>G	XP_011508662.1:p.Arg75=
XM_011510361.2:c.216A>G	XP_011508663.1:p.Arg72=
XM_017004317.1:c.2424A>G	XP_016859806.1:p.Arg808=
XM_024452961.1:c.1785A>G	XP_024308729.1:p.Arg595=
NM_015909.4:c.2424A>G MANE Select	NP_056993.2:p.Arg808=
NR_052013.3:n.2454A>G