Canonical Allele Identifier: CA42632379

Gene: NBAS

Linked Data

• dbSNP Id: rs941709690
• gnomAD v4: 2-15424263-T-C
• MyVariant Identifiers: chr2:g.15564387T>C (hg19) ; chr2:g.15424263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424263T>C , CM000664.2:g.15424263T>C	GRCh38
NC_000002.11:g.15564387T>C , CM000664.1:g.15564387T>C	GRCh37
NC_000002.10:g.15481838T>C	NCBI36
NG_032964.1:g.142086A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.674+52A>G
ENST00000700062.1:c.674+52A>G
ENST00000700065.1:n.2590+52A>G
ENST00000700066.1:c.2094+52A>G	ENSP00000514780.1:n.2094+52A>G
ENST00000281513.10:c.2577+52A>G MANE Select	ENSP00000281513.5:n.2577+52A>G
ENST00000281513.9:c.2577+52A>G	ENSP00000281513.5:n.2577+52A>G
ENST00000441755.5:c.78+52A>G	ENSP00000396501.1:n.78+52A>G
ENST00000442506.5:c.80+52A>G
NM_015909.3:c.2577+52A>G	NP_056993.2:n.2577+52A>G
NR_052013.2:n.2621+52A>G
XM_011510357.1:c.2448+52A>G	XP_011508659.1:n.2448+52A>G
XM_011510358.1:c.2577+52A>G	XP_011508660.1:n.2577+52A>G
XM_011510359.1:c.1938+52A>G	XP_011508661.1:n.1938+52A>G
XM_011510360.1:c.378+52A>G	XP_011508662.1:n.378+52A>G
XM_011510361.1:c.369+52A>G	XP_011508663.1:n.369+52A>G
XM_011510357.2:c.2448+52A>G	XP_011508659.1:n.2448+52A>G
XM_011510358.2:c.2577+52A>G	XP_011508660.1:n.2577+52A>G
XM_011510360.2:c.378+52A>G	XP_011508662.1:n.378+52A>G
XM_011510361.2:c.369+52A>G	XP_011508663.1:n.369+52A>G
XM_017004317.1:c.2577+52A>G	XP_016859806.1:n.2577+52A>G
XM_024452961.1:c.1938+52A>G	XP_024308729.1:n.1938+52A>G
NM_015909.4:c.2577+52A>G MANE Select	NP_056993.2:n.2577+52A>G
NR_052013.3:n.2607+52A>G