Canonical Allele Identifier: CA424870632

Gene: NBAS

Linked Data

• dbSNP Id: rs1264878366
• gnomAD v2: 2-15564574-A-G
• gnomAD v4: 2-15424450-A-G
• MyVariant Identifiers: chr2:g.15564574A>G (hg19) ; chr2:g.15424450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424450A>G , CM000664.2:g.15424450A>G	GRCh38
NC_000002.11:g.15564574A>G , CM000664.1:g.15564574A>G	GRCh37
NC_000002.10:g.15482025A>G	NCBI36
NG_032964.1:g.141899T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.539T>C
ENST00000700062.1:c.539T>C
ENST00000700065.1:n.2455T>C
ENST00000700066.1:c.1959T>C	ENSP00000514780.1:p.Asn653=
ENST00000281513.10:c.2442T>C MANE Select	ENSP00000281513.5:p.Asn814=
ENST00000281513.9:c.2442T>C	ENSP00000281513.5:p.Asn814=
NM_015909.3:c.2442T>C	NP_056993.2:p.Asn814=
NR_052013.2:n.2486T>C
XM_011510357.1:c.2313T>C	XP_011508659.1:p.Asn771=
XM_011510358.1:c.2442T>C	XP_011508660.1:p.Asn814=
XM_011510359.1:c.1803T>C	XP_011508661.1:p.Asn601=
XM_011510360.1:c.243T>C	XP_011508662.1:p.Asn81=
XM_011510361.1:c.234T>C	XP_011508663.1:p.Asn78=
XM_011510357.2:c.2313T>C	XP_011508659.1:p.Asn771=
XM_011510358.2:c.2442T>C	XP_011508660.1:p.Asn814=
XM_011510360.2:c.243T>C	XP_011508662.1:p.Asn81=
XM_011510361.2:c.234T>C	XP_011508663.1:p.Asn78=
XM_017004317.1:c.2442T>C	XP_016859806.1:p.Asn814=
XM_024452961.1:c.1803T>C	XP_024308729.1:p.Asn601=
NM_015909.4:c.2442T>C MANE Select	NP_056993.2:p.Asn814=
NR_052013.3:n.2472T>C