Canonical Allele Identifier: CA345882303

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542398C>G (hg19) ; chr2:g.15402274C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402274C>G , CM000664.2:g.15402274C>G	GRCh38
NC_000002.11:g.15542398C>G , CM000664.1:g.15542398C>G	GRCh37
NC_000002.10:g.15459849C>G	NCBI36
NG_032964.1:g.164075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1062G>C
ENST00000700062.1:c.1062G>C
ENST00000700065.1:n.2978G>C
ENST00000281513.10:c.2965G>C MANE Select	ENSP00000281513.5:p.Asp989His
ENST00000281513.9:c.2965G>C	ENSP00000281513.5:p.Asp989His
ENST00000429842.1:c.257G>C
ENST00000441755.5:c.106G>C	ENSP00000396501.1:p.Asp36His
ENST00000442506.5:c.108G>C
NM_015909.3:c.2965G>C	NP_056993.2:p.Asp989His
NR_052013.2:n.3009G>C
XM_011510357.1:c.2836G>C	XP_011508659.1:p.Asp946His
XM_011510358.1:c.2965G>C	XP_011508660.1:p.Asp989His
XM_011510359.1:c.2326G>C	XP_011508661.1:p.Asp776His
XM_011510360.1:c.766G>C	XP_011508662.1:p.Asp256His
XM_011510361.1:c.757G>C	XP_011508663.1:p.Asp253His
XM_011510357.2:c.2836G>C	XP_011508659.1:p.Asp946His
XM_011510358.2:c.2965G>C	XP_011508660.1:p.Asp989His
XM_011510360.2:c.766G>C	XP_011508662.1:p.Asp256His
XM_011510361.2:c.757G>C	XP_011508663.1:p.Asp253His
XM_017004317.1:c.2965G>C	XP_016859806.1:p.Asp989His
XM_024452961.1:c.2326G>C	XP_024308729.1:p.Asp776His
NM_015909.4:c.2965G>C MANE Select	NP_056993.2:p.Asp989His
NR_052013.3:n.2995G>C