Canonical Allele Identifier: CA531030364

Gene: NBAS

Linked Data

• dbSNP Id: rs1467076332
• gnomAD v2: 2-15542455-T-C
• gnomAD v3: 2-15402331-T-C
• gnomAD v4: 2-15402331-T-C
• MyVariant Identifiers: chr2:g.15542455T>C (hg19) ; chr2:g.15402331T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402331T>C , CM000664.2:g.15402331T>C	GRCh38
NC_000002.11:g.15542455T>C , CM000664.1:g.15542455T>C	GRCh37
NC_000002.10:g.15459906T>C	NCBI36
NG_032964.1:g.164018A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1035-30A>G
ENST00000700062.1:c.1035-30A>G
ENST00000700065.1:n.2951-30A>G
ENST00000281513.10:c.2938-30A>G MANE Select	ENSP00000281513.5:n.2938-30A>G
ENST00000281513.9:c.2938-30A>G	ENSP00000281513.5:n.2938-30A>G
ENST00000429842.1:c.230-30A>G
ENST00000441755.5:c.79-30A>G	ENSP00000396501.1:n.79-30A>G
ENST00000442506.5:c.81-30A>G
NM_015909.3:c.2938-30A>G	NP_056993.2:n.2938-30A>G
NR_052013.2:n.2982-30A>G
XM_011510357.1:c.2809-30A>G	XP_011508659.1:n.2809-30A>G
XM_011510358.1:c.2938-30A>G	XP_011508660.1:n.2938-30A>G
XM_011510359.1:c.2299-30A>G	XP_011508661.1:n.2299-30A>G
XM_011510360.1:c.739-30A>G	XP_011508662.1:n.739-30A>G
XM_011510361.1:c.730-30A>G	XP_011508663.1:n.730-30A>G
XM_011510357.2:c.2809-30A>G	XP_011508659.1:n.2809-30A>G
XM_011510358.2:c.2938-30A>G	XP_011508660.1:n.2938-30A>G
XM_011510360.2:c.739-30A>G	XP_011508662.1:n.739-30A>G
XM_011510361.2:c.730-30A>G	XP_011508663.1:n.730-30A>G
XM_017004317.1:c.2938-30A>G	XP_016859806.1:n.2938-30A>G
XM_024452961.1:c.2299-30A>G	XP_024308729.1:n.2299-30A>G
NM_015909.4:c.2938-30A>G MANE Select	NP_056993.2:n.2938-30A>G
NR_052013.3:n.2968-30A>G