Canonical Allele Identifier: CA345883864

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358932C>G (hg19) ; chr2:g.15218808C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218808C>G , CM000664.2:g.15218808C>G	GRCh38
NC_000002.11:g.15358932C>G , CM000664.1:g.15358932C>G	GRCh37
NC_000002.10:g.15276383C>G	NCBI36
NG_032964.1:g.347541G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4383G>C
ENST00000700062.1:c.4426+13614G>C
ENST00000700063.1:c.908G>C
ENST00000700064.1:c.2253G>C
ENST00000281513.10:c.6397G>C MANE Select	ENSP00000281513.5:p.Glu2133Gln
ENST00000281513.9:c.6397G>C	ENSP00000281513.5:p.Glu2133Gln
ENST00000417461.5:c.512+13614G>C	ENSP00000392421.1:n.512+13614G>C
ENST00000442506.5:c.3540G>C
NM_015909.3:c.6397G>C	NP_056993.2:p.Glu2133Gln
NR_052013.2:n.6280+13614G>C
XM_011510357.1:c.6268G>C	XP_011508659.1:p.Glu2090Gln
XM_011510358.1:c.6397G>C	XP_011508660.1:p.Glu2133Gln
XM_011510359.1:c.5758G>C	XP_011508661.1:p.Glu1920Gln
XM_011510360.1:c.4198G>C	XP_011508662.1:p.Glu1400Gln
XM_011510361.1:c.4189G>C	XP_011508663.1:p.Glu1397Gln
XM_011510357.2:c.6268G>C	XP_011508659.1:p.Glu2090Gln
XM_011510358.2:c.6397G>C	XP_011508660.1:p.Glu2133Gln
XM_011510360.2:c.4198G>C	XP_011508662.1:p.Glu1400Gln
XM_011510361.2:c.4189G>C	XP_011508663.1:p.Glu1397Gln
XM_017004317.1:c.6397G>C	XP_016859806.1:p.Glu2133Gln
XM_024452961.1:c.5758G>C	XP_024308729.1:p.Glu1920Gln
NM_015909.4:c.6397G>C MANE Select	NP_056993.2:p.Glu2133Gln
NR_052013.3:n.6266+13614G>C