Canonical Allele Identifier: CA1536206

Gene: NBAS

Linked Data

• dbSNP Id: rs746464913
• ExAC: 2:15542426 C / G
• gnomAD v2: 2-15542426-C-G
• gnomAD v4: 2-15402302-C-G
• MyVariant Identifiers: chr2:g.15542426C>G (hg19) ; chr2:g.15402302C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402302C>G , CM000664.2:g.15402302C>G	GRCh38
NC_000002.11:g.15542426C>G , CM000664.1:g.15542426C>G	GRCh37
NC_000002.10:g.15459877C>G	NCBI36
NG_032964.1:g.164047G>C

Transcript Alleles

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