Canonical Allele Identifier: CA42584312

Gene: NBAS

Linked Data

• dbSNP Id: rs957576527
• MyVariant Identifiers: chr2:g.15358931T>G (hg19) ; chr2:g.15218807T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218807T>G , CM000664.2:g.15218807T>G	GRCh38
NC_000002.11:g.15358931T>G , CM000664.1:g.15358931T>G	GRCh37
NC_000002.10:g.15276382T>G	NCBI36
NG_032964.1:g.347542A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4384A>C
ENST00000700062.1:c.4426+13615A>C
ENST00000700063.1:c.909A>C
ENST00000700064.1:c.2254A>C
ENST00000281513.10:c.6398A>C MANE Select	ENSP00000281513.5:p.Glu2133Ala
ENST00000281513.9:c.6398A>C	ENSP00000281513.5:p.Glu2133Ala
ENST00000417461.5:c.512+13615A>C	ENSP00000392421.1:n.512+13615A>C
ENST00000442506.5:c.3541A>C
NM_015909.3:c.6398A>C	NP_056993.2:p.Glu2133Ala
NR_052013.2:n.6280+13615A>C
XM_011510357.1:c.6269A>C	XP_011508659.1:p.Glu2090Ala
XM_011510358.1:c.6398A>C	XP_011508660.1:p.Glu2133Ala
XM_011510359.1:c.5759A>C	XP_011508661.1:p.Glu1920Ala
XM_011510360.1:c.4199A>C	XP_011508662.1:p.Glu1400Ala
XM_011510361.1:c.4190A>C	XP_011508663.1:p.Glu1397Ala
XM_011510357.2:c.6269A>C	XP_011508659.1:p.Glu2090Ala
XM_011510358.2:c.6398A>C	XP_011508660.1:p.Glu2133Ala
XM_011510360.2:c.4199A>C	XP_011508662.1:p.Glu1400Ala
XM_011510361.2:c.4190A>C	XP_011508663.1:p.Glu1397Ala
XM_017004317.1:c.6398A>C	XP_016859806.1:p.Glu2133Ala
XM_024452961.1:c.5759A>C	XP_024308729.1:p.Glu1920Ala
NM_015909.4:c.6398A>C MANE Select	NP_056993.2:p.Glu2133Ala
NR_052013.3:n.6266+13615A>C