Canonical Allele Identifier: CA1536207

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1576945
• ClinVar RCV Id: RCV002085621
• dbSNP Id: rs373212115
• ExAC: 2:15542445 T / C
• gnomAD v2: 2-15542445-T-C
• gnomAD v3: 2-15402321-T-C
• gnomAD v4: 2-15402321-T-C
• MyVariant Identifiers: chr2:g.15542445T>C (hg19) ; chr2:g.15402321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402321T>C , CM000664.2:g.15402321T>C	GRCh38
NC_000002.11:g.15542445T>C , CM000664.1:g.15542445T>C	GRCh37
NC_000002.10:g.15459896T>C	NCBI36
NG_032964.1:g.164028A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1035-20A>G
ENST00000700062.1:c.1035-20A>G
ENST00000700065.1:n.2951-20A>G
ENST00000281513.10:c.2938-20A>G MANE Select	ENSP00000281513.5:n.2938-20A>G
ENST00000281513.9:c.2938-20A>G	ENSP00000281513.5:n.2938-20A>G
ENST00000429842.1:c.230-20A>G
ENST00000441755.5:c.79-20A>G	ENSP00000396501.1:n.79-20A>G
ENST00000442506.5:c.81-20A>G
NM_015909.3:c.2938-20A>G	NP_056993.2:n.2938-20A>G
NR_052013.2:n.2982-20A>G
XM_011510357.1:c.2809-20A>G	XP_011508659.1:n.2809-20A>G
XM_011510358.1:c.2938-20A>G	XP_011508660.1:n.2938-20A>G
XM_011510359.1:c.2299-20A>G	XP_011508661.1:n.2299-20A>G
XM_011510360.1:c.739-20A>G	XP_011508662.1:n.739-20A>G
XM_011510361.1:c.730-20A>G	XP_011508663.1:n.730-20A>G
XM_011510357.2:c.2809-20A>G	XP_011508659.1:n.2809-20A>G
XM_011510358.2:c.2938-20A>G	XP_011508660.1:n.2938-20A>G
XM_011510360.2:c.739-20A>G	XP_011508662.1:n.739-20A>G
XM_011510361.2:c.730-20A>G	XP_011508663.1:n.730-20A>G
XM_017004317.1:c.2938-20A>G	XP_016859806.1:n.2938-20A>G
XM_024452961.1:c.2299-20A>G	XP_024308729.1:n.2299-20A>G
NM_015909.4:c.2938-20A>G MANE Select	NP_056993.2:n.2938-20A>G
NR_052013.3:n.2968-20A>G