Canonical Allele Identifier: CA345884486

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218864-C-T
• MyVariant Identifiers: chr2:g.15358988C>T (hg19) ; chr2:g.15218864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218864C>T , CM000664.2:g.15218864C>T	GRCh38
NC_000002.11:g.15358988C>T , CM000664.1:g.15358988C>T	GRCh37
NC_000002.10:g.15276439C>T	NCBI36
NG_032964.1:g.347485G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4327G>A
ENST00000700062.1:c.4426+13558G>A
ENST00000700063.1:c.852G>A
ENST00000700064.1:c.2197G>A
ENST00000281513.10:c.6341G>A MANE Select	ENSP00000281513.5:p.Gly2114Glu
ENST00000281513.9:c.6341G>A	ENSP00000281513.5:p.Gly2114Glu
ENST00000417461.5:c.512+13558G>A	ENSP00000392421.1:n.512+13558G>A
ENST00000442506.5:c.3484G>A
NM_015909.3:c.6341G>A	NP_056993.2:p.Gly2114Glu
NR_052013.2:n.6280+13558G>A
XM_011510357.1:c.6212G>A	XP_011508659.1:p.Gly2071Glu
XM_011510358.1:c.6341G>A	XP_011508660.1:p.Gly2114Glu
XM_011510359.1:c.5702G>A	XP_011508661.1:p.Gly1901Glu
XM_011510360.1:c.4142G>A	XP_011508662.1:p.Gly1381Glu
XM_011510361.1:c.4133G>A	XP_011508663.1:p.Gly1378Glu
XM_011510357.2:c.6212G>A	XP_011508659.1:p.Gly2071Glu
XM_011510358.2:c.6341G>A	XP_011508660.1:p.Gly2114Glu
XM_011510360.2:c.4142G>A	XP_011508662.1:p.Gly1381Glu
XM_011510361.2:c.4133G>A	XP_011508663.1:p.Gly1378Glu
XM_017004317.1:c.6341G>A	XP_016859806.1:p.Gly2114Glu
XM_024452961.1:c.5702G>A	XP_024308729.1:p.Gly1901Glu
NM_015909.4:c.6341G>A MANE Select	NP_056993.2:p.Gly2114Glu
NR_052013.3:n.6266+13558G>A