Canonical Allele Identifier: CA345882408

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542409A>C (hg19) ; chr2:g.15402285A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402285A>C , CM000664.2:g.15402285A>C	GRCh38
NC_000002.11:g.15542409A>C , CM000664.1:g.15542409A>C	GRCh37
NC_000002.10:g.15459860A>C	NCBI36
NG_032964.1:g.164064T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1051T>G
ENST00000700062.1:c.1051T>G
ENST00000700065.1:n.2967T>G
ENST00000281513.10:c.2954T>G MANE Select	ENSP00000281513.5:p.Ile985Ser
ENST00000281513.9:c.2954T>G	ENSP00000281513.5:p.Ile985Ser
ENST00000429842.1:c.246T>G
ENST00000441755.5:c.95T>G	ENSP00000396501.1:p.Ile32Ser
ENST00000442506.5:c.97T>G
NM_015909.3:c.2954T>G	NP_056993.2:p.Ile985Ser
NR_052013.2:n.2998T>G
XM_011510357.1:c.2825T>G	XP_011508659.1:p.Ile942Ser
XM_011510358.1:c.2954T>G	XP_011508660.1:p.Ile985Ser
XM_011510359.1:c.2315T>G	XP_011508661.1:p.Ile772Ser
XM_011510360.1:c.755T>G	XP_011508662.1:p.Ile252Ser
XM_011510361.1:c.746T>G	XP_011508663.1:p.Ile249Ser
XM_011510357.2:c.2825T>G	XP_011508659.1:p.Ile942Ser
XM_011510358.2:c.2954T>G	XP_011508660.1:p.Ile985Ser
XM_011510360.2:c.755T>G	XP_011508662.1:p.Ile252Ser
XM_011510361.2:c.746T>G	XP_011508663.1:p.Ile249Ser
XM_017004317.1:c.2954T>G	XP_016859806.1:p.Ile985Ser
XM_024452961.1:c.2315T>G	XP_024308729.1:p.Ile772Ser
NM_015909.4:c.2954T>G MANE Select	NP_056993.2:p.Ile985Ser
NR_052013.3:n.2984T>G