Canonical Allele Identifier: CA345882509

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542425G>C (hg19) ; chr2:g.15402301G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402301G>C , CM000664.2:g.15402301G>C	GRCh38
NC_000002.11:g.15542425G>C , CM000664.1:g.15542425G>C	GRCh37
NC_000002.10:g.15459876G>C	NCBI36
NG_032964.1:g.164048C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1035C>G
ENST00000700062.1:c.1035C>G
ENST00000700065.1:n.2951C>G
ENST00000281513.10:c.2938C>G MANE Select	ENSP00000281513.5:p.Leu980Val
ENST00000281513.9:c.2938C>G	ENSP00000281513.5:p.Leu980Val
ENST00000429842.1:c.230C>G
ENST00000441755.5:c.79C>G	ENSP00000396501.1:p.Leu27Val
ENST00000442506.5:c.81C>G
NM_015909.3:c.2938C>G	NP_056993.2:p.Leu980Val
NR_052013.2:n.2982C>G
XM_011510357.1:c.2809C>G	XP_011508659.1:p.Leu937Val
XM_011510358.1:c.2938C>G	XP_011508660.1:p.Leu980Val
XM_011510359.1:c.2299C>G	XP_011508661.1:p.Leu767Val
XM_011510360.1:c.739C>G	XP_011508662.1:p.Leu247Val
XM_011510361.1:c.730C>G	XP_011508663.1:p.Leu244Val
XM_011510357.2:c.2809C>G	XP_011508659.1:p.Leu937Val
XM_011510358.2:c.2938C>G	XP_011508660.1:p.Leu980Val
XM_011510360.2:c.739C>G	XP_011508662.1:p.Leu247Val
XM_011510361.2:c.730C>G	XP_011508663.1:p.Leu244Val
XM_017004317.1:c.2938C>G	XP_016859806.1:p.Leu980Val
XM_024452961.1:c.2299C>G	XP_024308729.1:p.Leu767Val
NM_015909.4:c.2938C>G MANE Select	NP_056993.2:p.Leu980Val
NR_052013.3:n.2968C>G