Canonical Allele Identifier: CA424866934

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218839-C-T
• MyVariant Identifiers: chr2:g.15358963C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218839C>T , CM000664.2:g.15218839C>T	GRCh38
NC_000002.11:g.15358963C>T , CM000664.1:g.15358963C>T	GRCh37
NC_000002.10:g.15276414C>T	NCBI36
NG_032964.1:g.347510G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4352G>A
ENST00000700062.1:c.4426+13583G>A
ENST00000700063.1:c.877G>A
ENST00000700064.1:c.2222G>A
ENST00000281513.10:c.6366G>A MANE Select	ENSP00000281513.5:p.Glu2122=
ENST00000281513.9:c.6366G>A	ENSP00000281513.5:p.Glu2122=
ENST00000417461.5:c.512+13583G>A	ENSP00000392421.1:n.512+13583G>A
ENST00000442506.5:c.3509G>A
NM_015909.3:c.6366G>A	NP_056993.2:p.Glu2122=
NR_052013.2:n.6280+13583G>A
XM_011510357.1:c.6237G>A	XP_011508659.1:p.Glu2079=
XM_011510358.1:c.6366G>A	XP_011508660.1:p.Glu2122=
XM_011510359.1:c.5727G>A	XP_011508661.1:p.Glu1909=
XM_011510360.1:c.4167G>A	XP_011508662.1:p.Glu1389=
XM_011510361.1:c.4158G>A	XP_011508663.1:p.Glu1386=
XM_011510357.2:c.6237G>A	XP_011508659.1:p.Glu2079=
XM_011510358.2:c.6366G>A	XP_011508660.1:p.Glu2122=
XM_011510360.2:c.4167G>A	XP_011508662.1:p.Glu1389=
XM_011510361.2:c.4158G>A	XP_011508663.1:p.Glu1386=
XM_017004317.1:c.6366G>A	XP_016859806.1:p.Glu2122=
XM_024452961.1:c.5727G>A	XP_024308729.1:p.Glu1909=
NM_015909.4:c.6366G>A MANE Select	NP_056993.2:p.Glu2122=
NR_052013.3:n.6266+13583G>A