Canonical Allele Identifier: CA424866922

Gene: NBAS

Linked Data

• dbSNP Id: rs1330079588
• gnomAD v2: 2-15358938-T-G
• MyVariant Identifiers: chr2:g.15358938T>G (hg19) ; chr2:g.15218814T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218814T>G , CM000664.2:g.15218814T>G	GRCh38
NC_000002.11:g.15358938T>G , CM000664.1:g.15358938T>G	GRCh37
NC_000002.10:g.15276389T>G	NCBI36
NG_032964.1:g.347535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4377A>C
ENST00000700062.1:c.4426+13608A>C
ENST00000700063.1:c.902A>C
ENST00000700064.1:c.2247A>C
ENST00000281513.10:c.6391A>C MANE Select	ENSP00000281513.5:p.Arg2131=
ENST00000281513.9:c.6391A>C	ENSP00000281513.5:p.Arg2131=
ENST00000417461.5:c.512+13608A>C	ENSP00000392421.1:n.512+13608A>C
ENST00000442506.5:c.3534A>C
NM_015909.3:c.6391A>C	NP_056993.2:p.Arg2131=
NR_052013.2:n.6280+13608A>C
XM_011510357.1:c.6262A>C	XP_011508659.1:p.Arg2088=
XM_011510358.1:c.6391A>C	XP_011508660.1:p.Arg2131=
XM_011510359.1:c.5752A>C	XP_011508661.1:p.Arg1918=
XM_011510360.1:c.4192A>C	XP_011508662.1:p.Arg1398=
XM_011510361.1:c.4183A>C	XP_011508663.1:p.Arg1395=
XM_011510357.2:c.6262A>C	XP_011508659.1:p.Arg2088=
XM_011510358.2:c.6391A>C	XP_011508660.1:p.Arg2131=
XM_011510360.2:c.4192A>C	XP_011508662.1:p.Arg1398=
XM_011510361.2:c.4183A>C	XP_011508663.1:p.Arg1395=
XM_017004317.1:c.6391A>C	XP_016859806.1:p.Arg2131=
XM_024452961.1:c.5752A>C	XP_024308729.1:p.Arg1918=
NM_015909.4:c.6391A>C MANE Select	NP_056993.2:p.Arg2131=
NR_052013.3:n.6266+13608A>C