Canonical Allele Identifier: CA424866997

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15359065C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218941C>G , CM000664.2:g.15218941C>G	GRCh38
NC_000002.11:g.15359065C>G , CM000664.1:g.15359065C>G	GRCh37
NC_000002.10:g.15276516C>G	NCBI36
NG_032964.1:g.347408G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4250G>C
ENST00000700062.1:c.4426+13481G>C
ENST00000700063.1:c.775G>C
ENST00000700064.1:c.2120G>C
ENST00000281513.10:c.6264G>C MANE Select	ENSP00000281513.5:p.Leu2088=
ENST00000281513.9:c.6264G>C	ENSP00000281513.5:p.Leu2088=
ENST00000417461.5:c.512+13481G>C	ENSP00000392421.1:n.512+13481G>C
ENST00000442506.5:c.3407G>C
NM_015909.3:c.6264G>C	NP_056993.2:p.Leu2088=
NR_052013.2:n.6280+13481G>C
XM_011510357.1:c.6135G>C	XP_011508659.1:p.Leu2045=
XM_011510358.1:c.6264G>C	XP_011508660.1:p.Leu2088=
XM_011510359.1:c.5625G>C	XP_011508661.1:p.Leu1875=
XM_011510360.1:c.4065G>C	XP_011508662.1:p.Leu1355=
XM_011510361.1:c.4056G>C	XP_011508663.1:p.Leu1352=
XM_011510357.2:c.6135G>C	XP_011508659.1:p.Leu2045=
XM_011510358.2:c.6264G>C	XP_011508660.1:p.Leu2088=
XM_011510360.2:c.4065G>C	XP_011508662.1:p.Leu1355=
XM_011510361.2:c.4056G>C	XP_011508663.1:p.Leu1352=
XM_017004317.1:c.6264G>C	XP_016859806.1:p.Leu2088=
XM_024452961.1:c.5625G>C	XP_024308729.1:p.Leu1875=
NM_015909.4:c.6264G>C MANE Select	NP_056993.2:p.Leu2088=
NR_052013.3:n.6266+13481G>C