Canonical Allele Identifier: CA345884714

Gene: NBAS

Linked Data

• ClinVar Variation Id: 2087711
• ClinVar RCV Id: RCV003009698
• dbSNP Id: rs553094685
• gnomAD v2: 2-15359013-G-C
• gnomAD v4: 2-15218889-G-C
• COSMIC: COSM1325865
• MyVariant Identifiers: chr2:g.15359013G>C (hg19) ; chr2:g.15218889G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218889G>C , CM000664.2:g.15218889G>C	GRCh38
NC_000002.11:g.15359013G>C , CM000664.1:g.15359013G>C	GRCh37
NC_000002.10:g.15276464G>C	NCBI36
NG_032964.1:g.347460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4302C>G
ENST00000700062.1:c.4426+13533C>G
ENST00000700063.1:c.827C>G
ENST00000700064.1:c.2172C>G
ENST00000281513.10:c.6316C>G MANE Select	ENSP00000281513.5:p.Arg2106Gly
ENST00000281513.9:c.6316C>G	ENSP00000281513.5:p.Arg2106Gly
ENST00000417461.5:c.512+13533C>G	ENSP00000392421.1:n.512+13533C>G
ENST00000442506.5:c.3459C>G
NM_015909.3:c.6316C>G	NP_056993.2:p.Arg2106Gly
NR_052013.2:n.6280+13533C>G
XM_011510357.1:c.6187C>G	XP_011508659.1:p.Arg2063Gly
XM_011510358.1:c.6316C>G	XP_011508660.1:p.Arg2106Gly
XM_011510359.1:c.5677C>G	XP_011508661.1:p.Arg1893Gly
XM_011510360.1:c.4117C>G	XP_011508662.1:p.Arg1373Gly
XM_011510361.1:c.4108C>G	XP_011508663.1:p.Arg1370Gly
XM_011510357.2:c.6187C>G	XP_011508659.1:p.Arg2063Gly
XM_011510358.2:c.6316C>G	XP_011508660.1:p.Arg2106Gly
XM_011510360.2:c.4117C>G	XP_011508662.1:p.Arg1373Gly
XM_011510361.2:c.4108C>G	XP_011508663.1:p.Arg1370Gly
XM_017004317.1:c.6316C>G	XP_016859806.1:p.Arg2106Gly
XM_024452961.1:c.5677C>G	XP_024308729.1:p.Arg1893Gly
NM_015909.4:c.6316C>G MANE Select	NP_056993.2:p.Arg2106Gly
NR_052013.3:n.6266+13533C>G