Canonical Allele Identifier: CA345884561

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358995T>A (hg19) ; chr2:g.15218871T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218871T>A , CM000664.2:g.15218871T>A	GRCh38
NC_000002.11:g.15358995T>A , CM000664.1:g.15358995T>A	GRCh37
NC_000002.10:g.15276446T>A	NCBI36
NG_032964.1:g.347478A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4320A>T
ENST00000700062.1:c.4426+13551A>T
ENST00000700063.1:c.845A>T
ENST00000700064.1:c.2190A>T
ENST00000281513.10:c.6334A>T MANE Select	ENSP00000281513.5:p.Ile2112Phe
ENST00000281513.9:c.6334A>T	ENSP00000281513.5:p.Ile2112Phe
ENST00000417461.5:c.512+13551A>T	ENSP00000392421.1:n.512+13551A>T
ENST00000442506.5:c.3477A>T
NM_015909.3:c.6334A>T	NP_056993.2:p.Ile2112Phe
NR_052013.2:n.6280+13551A>T
XM_011510357.1:c.6205A>T	XP_011508659.1:p.Ile2069Phe
XM_011510358.1:c.6334A>T	XP_011508660.1:p.Ile2112Phe
XM_011510359.1:c.5695A>T	XP_011508661.1:p.Ile1899Phe
XM_011510360.1:c.4135A>T	XP_011508662.1:p.Ile1379Phe
XM_011510361.1:c.4126A>T	XP_011508663.1:p.Ile1376Phe
XM_011510357.2:c.6205A>T	XP_011508659.1:p.Ile2069Phe
XM_011510358.2:c.6334A>T	XP_011508660.1:p.Ile2112Phe
XM_011510360.2:c.4135A>T	XP_011508662.1:p.Ile1379Phe
XM_011510361.2:c.4126A>T	XP_011508663.1:p.Ile1376Phe
XM_017004317.1:c.6334A>T	XP_016859806.1:p.Ile2112Phe
XM_024452961.1:c.5695A>T	XP_024308729.1:p.Ile1899Phe
NM_015909.4:c.6334A>T MANE Select	NP_056993.2:p.Ile2112Phe
NR_052013.3:n.6266+13551A>T