Canonical Allele Identifier: CA345884525

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1345850
• ClinVar RCV Id: RCV002037598
• dbSNP Id: rs2147884568
• gnomAD v4: 2-15218867-A-C
• MyVariant Identifiers: chr2:g.15358991A>C (hg19) ; chr2:g.15218867A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218867A>C , CM000664.2:g.15218867A>C	GRCh38
NC_000002.11:g.15358991A>C , CM000664.1:g.15358991A>C	GRCh37
NC_000002.10:g.15276442A>C	NCBI36
NG_032964.1:g.347482T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4324T>G
ENST00000700062.1:c.4426+13555T>G
ENST00000700063.1:c.849T>G
ENST00000700064.1:c.2194T>G
ENST00000281513.10:c.6338T>G MANE Select	ENSP00000281513.5:p.Leu2113Trp
ENST00000281513.9:c.6338T>G	ENSP00000281513.5:p.Leu2113Trp
ENST00000417461.5:c.512+13555T>G	ENSP00000392421.1:n.512+13555T>G
ENST00000442506.5:c.3481T>G
NM_015909.3:c.6338T>G	NP_056993.2:p.Leu2113Trp
NR_052013.2:n.6280+13555T>G
XM_011510357.1:c.6209T>G	XP_011508659.1:p.Leu2070Trp
XM_011510358.1:c.6338T>G	XP_011508660.1:p.Leu2113Trp
XM_011510359.1:c.5699T>G	XP_011508661.1:p.Leu1900Trp
XM_011510360.1:c.4139T>G	XP_011508662.1:p.Leu1380Trp
XM_011510361.1:c.4130T>G	XP_011508663.1:p.Leu1377Trp
XM_011510357.2:c.6209T>G	XP_011508659.1:p.Leu2070Trp
XM_011510358.2:c.6338T>G	XP_011508660.1:p.Leu2113Trp
XM_011510360.2:c.4139T>G	XP_011508662.1:p.Leu1380Trp
XM_011510361.2:c.4130T>G	XP_011508663.1:p.Leu1377Trp
XM_017004317.1:c.6338T>G	XP_016859806.1:p.Leu2113Trp
XM_024452961.1:c.5699T>G	XP_024308729.1:p.Leu1900Trp
NM_015909.4:c.6338T>G MANE Select	NP_056993.2:p.Leu2113Trp
NR_052013.3:n.6266+13555T>G