Canonical Allele Identifier: CA345882065

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542357A>C (hg19) ; chr2:g.15402233A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402233A>C , CM000664.2:g.15402233A>C	GRCh38
NC_000002.11:g.15542357A>C , CM000664.1:g.15542357A>C	GRCh37
NC_000002.10:g.15459808A>C	NCBI36
NG_032964.1:g.164116T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1103T>G
ENST00000700062.1:c.1103T>G
ENST00000700065.1:n.3019T>G
ENST00000281513.10:c.3006T>G MANE Select	ENSP00000281513.5:p.Cys1002Trp
ENST00000281513.9:c.3006T>G	ENSP00000281513.5:p.Cys1002Trp
ENST00000429842.1:c.298T>G
ENST00000441755.5:c.147T>G	ENSP00000396501.1:p.Cys49Trp
ENST00000442506.5:c.149T>G
NM_015909.3:c.3006T>G	NP_056993.2:p.Cys1002Trp
NR_052013.2:n.3050T>G
XM_011510357.1:c.2877T>G	XP_011508659.1:p.Cys959Trp
XM_011510358.1:c.3006T>G	XP_011508660.1:p.Cys1002Trp
XM_011510359.1:c.2367T>G	XP_011508661.1:p.Cys789Trp
XM_011510360.1:c.807T>G	XP_011508662.1:p.Cys269Trp
XM_011510361.1:c.798T>G	XP_011508663.1:p.Cys266Trp
XM_011510357.2:c.2877T>G	XP_011508659.1:p.Cys959Trp
XM_011510358.2:c.3006T>G	XP_011508660.1:p.Cys1002Trp
XM_011510360.2:c.807T>G	XP_011508662.1:p.Cys269Trp
XM_011510361.2:c.798T>G	XP_011508663.1:p.Cys266Trp
XM_017004317.1:c.3006T>G	XP_016859806.1:p.Cys1002Trp
XM_024452961.1:c.2367T>G	XP_024308729.1:p.Cys789Trp
NM_015909.4:c.3006T>G MANE Select	NP_056993.2:p.Cys1002Trp
NR_052013.3:n.3036T>G