Canonical Allele Identifier: CA531030363

Gene: NBAS

Linked Data

• dbSNP Id: rs761538347
• gnomAD v2: 2-15542450-C-A
• MyVariant Identifiers: chr2:g.15542450C>A (hg19) ; chr2:g.15402326C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402326C>A , CM000664.2:g.15402326C>A	GRCh38
NC_000002.11:g.15542450C>A , CM000664.1:g.15542450C>A	GRCh37
NC_000002.10:g.15459901C>A	NCBI36
NG_032964.1:g.164023G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1035-25G>T
ENST00000700062.1:c.1035-25G>T
ENST00000700065.1:n.2951-25G>T
ENST00000281513.10:c.2938-25G>T MANE Select	ENSP00000281513.5:n.2938-25G>T
ENST00000281513.9:c.2938-25G>T	ENSP00000281513.5:n.2938-25G>T
ENST00000429842.1:c.230-25G>T
ENST00000441755.5:c.79-25G>T	ENSP00000396501.1:n.79-25G>T
ENST00000442506.5:c.81-25G>T
NM_015909.3:c.2938-25G>T	NP_056993.2:n.2938-25G>T
NR_052013.2:n.2982-25G>T
XM_011510357.1:c.2809-25G>T	XP_011508659.1:n.2809-25G>T
XM_011510358.1:c.2938-25G>T	XP_011508660.1:n.2938-25G>T
XM_011510359.1:c.2299-25G>T	XP_011508661.1:n.2299-25G>T
XM_011510360.1:c.739-25G>T	XP_011508662.1:n.739-25G>T
XM_011510361.1:c.730-25G>T	XP_011508663.1:n.730-25G>T
XM_011510357.2:c.2809-25G>T	XP_011508659.1:n.2809-25G>T
XM_011510358.2:c.2938-25G>T	XP_011508660.1:n.2938-25G>T
XM_011510360.2:c.739-25G>T	XP_011508662.1:n.739-25G>T
XM_011510361.2:c.730-25G>T	XP_011508663.1:n.730-25G>T
XM_017004317.1:c.2938-25G>T	XP_016859806.1:n.2938-25G>T
XM_024452961.1:c.2299-25G>T	XP_024308729.1:n.2299-25G>T
NM_015909.4:c.2938-25G>T MANE Select	NP_056993.2:n.2938-25G>T
NR_052013.3:n.2968-25G>T