Canonical Allele Identifier: CA531015717

Gene: NBAS

Linked Data

• dbSNP Id: rs1180068989
• gnomAD v2: 2-15359341-T-C
• gnomAD v3: 2-15219217-T-C
• gnomAD v4: 2-15219217-T-C
• MyVariant Identifiers: chr2:g.15359341T>C (hg19) ; chr2:g.15219217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15219217T>C , CM000664.2:g.15219217T>C	GRCh38
NC_000002.11:g.15359341T>C , CM000664.1:g.15359341T>C	GRCh37
NC_000002.10:g.15276792T>C	NCBI36
NG_032964.1:g.347132A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4223-249A>G
ENST00000700062.1:c.4426+13205A>G
ENST00000700063.1:c.748-249A>G
ENST00000700064.1:c.2093-249A>G
ENST00000281513.10:c.6237-249A>G MANE Select	ENSP00000281513.5:n.6237-249A>G
ENST00000281513.9:c.6237-249A>G	ENSP00000281513.5:n.6237-249A>G
ENST00000417461.5:c.512+13205A>G	ENSP00000392421.1:n.512+13205A>G
ENST00000442506.5:c.3380-249A>G
NM_015909.3:c.6237-249A>G	NP_056993.2:n.6237-249A>G
NR_052013.2:n.6280+13205A>G
XM_011510357.1:c.6108-249A>G	XP_011508659.1:n.6108-249A>G
XM_011510358.1:c.6237-249A>G	XP_011508660.1:n.6237-249A>G
XM_011510359.1:c.5598-249A>G	XP_011508661.1:n.5598-249A>G
XM_011510360.1:c.4038-249A>G	XP_011508662.1:n.4038-249A>G
XM_011510361.1:c.4029-249A>G	XP_011508663.1:n.4029-249A>G
XM_011510357.2:c.6108-249A>G	XP_011508659.1:n.6108-249A>G
XM_011510358.2:c.6237-249A>G	XP_011508660.1:n.6237-249A>G
XM_011510360.2:c.4038-249A>G	XP_011508662.1:n.4038-249A>G
XM_011510361.2:c.4029-249A>G	XP_011508663.1:n.4029-249A>G
XM_017004317.1:c.6237-249A>G	XP_016859806.1:n.6237-249A>G
XM_024452961.1:c.5598-249A>G	XP_024308729.1:n.5598-249A>G
NM_015909.4:c.6237-249A>G MANE Select	NP_056993.2:n.6237-249A>G
NR_052013.3:n.6266+13205A>G