Canonical Allele Identifier: CA345883881

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358934G>A (hg19) ; chr2:g.15218810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218810G>A , CM000664.2:g.15218810G>A	GRCh38
NC_000002.11:g.15358934G>A , CM000664.1:g.15358934G>A	GRCh37
NC_000002.10:g.15276385G>A	NCBI36
NG_032964.1:g.347539C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4381C>T
ENST00000700062.1:c.4426+13612C>T
ENST00000700063.1:c.906C>T
ENST00000700064.1:c.2251C>T
ENST00000281513.10:c.6395C>T MANE Select	ENSP00000281513.5:p.Thr2132Ile
ENST00000281513.9:c.6395C>T	ENSP00000281513.5:p.Thr2132Ile
ENST00000417461.5:c.512+13612C>T	ENSP00000392421.1:n.512+13612C>T
ENST00000442506.5:c.3538C>T
NM_015909.3:c.6395C>T	NP_056993.2:p.Thr2132Ile
NR_052013.2:n.6280+13612C>T
XM_011510357.1:c.6266C>T	XP_011508659.1:p.Thr2089Ile
XM_011510358.1:c.6395C>T	XP_011508660.1:p.Thr2132Ile
XM_011510359.1:c.5756C>T	XP_011508661.1:p.Thr1919Ile
XM_011510360.1:c.4196C>T	XP_011508662.1:p.Thr1399Ile
XM_011510361.1:c.4187C>T	XP_011508663.1:p.Thr1396Ile
XM_011510357.2:c.6266C>T	XP_011508659.1:p.Thr2089Ile
XM_011510358.2:c.6395C>T	XP_011508660.1:p.Thr2132Ile
XM_011510360.2:c.4196C>T	XP_011508662.1:p.Thr1399Ile
XM_011510361.2:c.4187C>T	XP_011508663.1:p.Thr1396Ile
XM_017004317.1:c.6395C>T	XP_016859806.1:p.Thr2132Ile
XM_024452961.1:c.5756C>T	XP_024308729.1:p.Thr1919Ile
NM_015909.4:c.6395C>T MANE Select	NP_056993.2:p.Thr2132Ile
NR_052013.3:n.6266+13612C>T