Canonical Allele Identifier: CA345881905

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542317C>G (hg19) ; chr2:g.15402193C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402193C>G , CM000664.2:g.15402193C>G	GRCh38
NC_000002.11:g.15542317C>G , CM000664.1:g.15542317C>G	GRCh37
NC_000002.10:g.15459768C>G	NCBI36
NG_032964.1:g.164156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1143G>C
ENST00000700062.1:c.1143G>C
ENST00000700065.1:n.3059G>C
ENST00000281513.10:c.3046G>C MANE Select	ENSP00000281513.5:p.Glu1016Gln
ENST00000281513.9:c.3046G>C	ENSP00000281513.5:p.Glu1016Gln
ENST00000429842.1:c.338G>C
ENST00000441755.5:c.187G>C	ENSP00000396501.1:p.Glu63Gln
ENST00000442506.5:c.189G>C
NM_015909.3:c.3046G>C	NP_056993.2:p.Glu1016Gln
NR_052013.2:n.3090G>C
XM_011510357.1:c.2917G>C	XP_011508659.1:p.Glu973Gln
XM_011510358.1:c.3046G>C	XP_011508660.1:p.Glu1016Gln
XM_011510359.1:c.2407G>C	XP_011508661.1:p.Glu803Gln
XM_011510360.1:c.847G>C	XP_011508662.1:p.Glu283Gln
XM_011510361.1:c.838G>C	XP_011508663.1:p.Glu280Gln
XM_011510357.2:c.2917G>C	XP_011508659.1:p.Glu973Gln
XM_011510358.2:c.3046G>C	XP_011508660.1:p.Glu1016Gln
XM_011510360.2:c.847G>C	XP_011508662.1:p.Glu283Gln
XM_011510361.2:c.838G>C	XP_011508663.1:p.Glu280Gln
XM_017004317.1:c.3046G>C	XP_016859806.1:p.Glu1016Gln
XM_024452961.1:c.2407G>C	XP_024308729.1:p.Glu803Gln
NM_015909.4:c.3046G>C MANE Select	NP_056993.2:p.Glu1016Gln
NR_052013.3:n.3076G>C