Canonical Allele Identifier: CA345881847

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542292C>G (hg19) ; chr2:g.15402168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402168C>G , CM000664.2:g.15402168C>G	GRCh38
NC_000002.11:g.15542292C>G , CM000664.1:g.15542292C>G	GRCh37
NC_000002.10:g.15459743C>G	NCBI36
NG_032964.1:g.164181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1168G>C
ENST00000700062.1:c.1168G>C
ENST00000700065.1:n.3084G>C
ENST00000281513.10:c.3071G>C MANE Select	ENSP00000281513.5:p.Gly1024Ala
ENST00000281513.9:c.3071G>C	ENSP00000281513.5:p.Gly1024Ala
ENST00000429842.1:c.363G>C
ENST00000441755.5:c.212G>C	ENSP00000396501.1:p.Gly71Ala
ENST00000442506.5:c.214G>C
NM_015909.3:c.3071G>C	NP_056993.2:p.Gly1024Ala
NR_052013.2:n.3115G>C
XM_011510357.1:c.2942G>C	XP_011508659.1:p.Gly981Ala
XM_011510358.1:c.3071G>C	XP_011508660.1:p.Gly1024Ala
XM_011510359.1:c.2432G>C	XP_011508661.1:p.Gly811Ala
XM_011510360.1:c.872G>C	XP_011508662.1:p.Gly291Ala
XM_011510361.1:c.863G>C	XP_011508663.1:p.Gly288Ala
XM_011510357.2:c.2942G>C	XP_011508659.1:p.Gly981Ala
XM_011510358.2:c.3071G>C	XP_011508660.1:p.Gly1024Ala
XM_011510360.2:c.872G>C	XP_011508662.1:p.Gly291Ala
XM_011510361.2:c.863G>C	XP_011508663.1:p.Gly288Ala
XM_017004317.1:c.3071G>C	XP_016859806.1:p.Gly1024Ala
XM_024452961.1:c.2432G>C	XP_024308729.1:p.Gly811Ala
NM_015909.4:c.3071G>C MANE Select	NP_056993.2:p.Gly1024Ala
NR_052013.3:n.3101G>C