Canonical Allele Identifier: CA424867014

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15359085G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218961G>A , CM000664.2:g.15218961G>A	GRCh38
NC_000002.11:g.15359085G>A , CM000664.1:g.15359085G>A	GRCh37
NC_000002.10:g.15276536G>A	NCBI36
NG_032964.1:g.347388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4230C>T
ENST00000700062.1:c.4426+13461C>T
ENST00000700063.1:c.755C>T
ENST00000700064.1:c.2100C>T
ENST00000281513.10:c.6244C>T MANE Select	ENSP00000281513.5:p.Leu2082=
ENST00000281513.9:c.6244C>T	ENSP00000281513.5:p.Leu2082=
ENST00000417461.5:c.512+13461C>T	ENSP00000392421.1:n.512+13461C>T
ENST00000442506.5:c.3387C>T
NM_015909.3:c.6244C>T	NP_056993.2:p.Leu2082=
NR_052013.2:n.6280+13461C>T
XM_011510357.1:c.6115C>T	XP_011508659.1:p.Leu2039=
XM_011510358.1:c.6244C>T	XP_011508660.1:p.Leu2082=
XM_011510359.1:c.5605C>T	XP_011508661.1:p.Leu1869=
XM_011510360.1:c.4045C>T	XP_011508662.1:p.Leu1349=
XM_011510361.1:c.4036C>T	XP_011508663.1:p.Leu1346=
XM_011510357.2:c.6115C>T	XP_011508659.1:p.Leu2039=
XM_011510358.2:c.6244C>T	XP_011508660.1:p.Leu2082=
XM_011510360.2:c.4045C>T	XP_011508662.1:p.Leu1349=
XM_011510361.2:c.4036C>T	XP_011508663.1:p.Leu1346=
XM_017004317.1:c.6244C>T	XP_016859806.1:p.Leu2082=
XM_024452961.1:c.5605C>T	XP_024308729.1:p.Leu1869=
NM_015909.4:c.6244C>T MANE Select	NP_056993.2:p.Leu2082=
NR_052013.3:n.6266+13461C>T