Canonical Allele Identifier: CA424866938

Gene: NBAS

Linked Data

• dbSNP Id: rs1466512095
• gnomAD v3: 2-15218845-A-T
• gnomAD v4: 2-15218845-A-T
• MyVariant Identifiers: chr2:g.15358969A>T (hg19) ; chr2:g.15218845A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218845A>T , CM000664.2:g.15218845A>T	GRCh38
NC_000002.11:g.15358969A>T , CM000664.1:g.15358969A>T	GRCh37
NC_000002.10:g.15276420A>T	NCBI36
NG_032964.1:g.347504T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4346T>A
ENST00000700062.1:c.4426+13577T>A
ENST00000700063.1:c.871T>A
ENST00000700064.1:c.2216T>A
ENST00000281513.10:c.6360T>A MANE Select	ENSP00000281513.5:p.Thr2120=
ENST00000281513.9:c.6360T>A	ENSP00000281513.5:p.Thr2120=
ENST00000417461.5:c.512+13577T>A	ENSP00000392421.1:n.512+13577T>A
ENST00000442506.5:c.3503T>A
NM_015909.3:c.6360T>A	NP_056993.2:p.Thr2120=
NR_052013.2:n.6280+13577T>A
XM_011510357.1:c.6231T>A	XP_011508659.1:p.Thr2077=
XM_011510358.1:c.6360T>A	XP_011508660.1:p.Thr2120=
XM_011510359.1:c.5721T>A	XP_011508661.1:p.Thr1907=
XM_011510360.1:c.4161T>A	XP_011508662.1:p.Thr1387=
XM_011510361.1:c.4152T>A	XP_011508663.1:p.Thr1384=
XM_011510357.2:c.6231T>A	XP_011508659.1:p.Thr2077=
XM_011510358.2:c.6360T>A	XP_011508660.1:p.Thr2120=
XM_011510360.2:c.4161T>A	XP_011508662.1:p.Thr1387=
XM_011510361.2:c.4152T>A	XP_011508663.1:p.Thr1384=
XM_017004317.1:c.6360T>A	XP_016859806.1:p.Thr2120=
XM_024452961.1:c.5721T>A	XP_024308729.1:p.Thr1907=
NM_015909.4:c.6360T>A MANE Select	NP_056993.2:p.Thr2120=
NR_052013.3:n.6266+13577T>A