Canonical Allele Identifier: CA345883799

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358920T>A (hg19) ; chr2:g.15218796T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218796T>A , CM000664.2:g.15218796T>A	GRCh38
NC_000002.11:g.15358920T>A , CM000664.1:g.15358920T>A	GRCh37
NC_000002.10:g.15276371T>A	NCBI36
NG_032964.1:g.347553A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4395A>T
ENST00000700062.1:c.4426+13626A>T
ENST00000700063.1:c.920A>T
ENST00000700064.1:c.2265A>T
ENST00000281513.10:c.6409A>T MANE Select	ENSP00000281513.5:p.Lys2137Ter
ENST00000281513.9:c.6409A>T	ENSP00000281513.5:p.Lys2137Ter
ENST00000417461.5:c.512+13626A>T	ENSP00000392421.1:n.512+13626A>T
ENST00000442506.5:c.3552A>T
NM_015909.3:c.6409A>T	NP_056993.2:p.Lys2137Ter
NR_052013.2:n.6280+13626A>T
XM_011510357.1:c.6280A>T	XP_011508659.1:p.Lys2094Ter
XM_011510358.1:c.6409A>T	XP_011508660.1:p.Lys2137Ter
XM_011510359.1:c.5770A>T	XP_011508661.1:p.Lys1924Ter
XM_011510360.1:c.4210A>T	XP_011508662.1:p.Lys1404Ter
XM_011510361.1:c.4201A>T	XP_011508663.1:p.Lys1401Ter
XM_011510357.2:c.6280A>T	XP_011508659.1:p.Lys2094Ter
XM_011510358.2:c.6409A>T	XP_011508660.1:p.Lys2137Ter
XM_011510360.2:c.4210A>T	XP_011508662.1:p.Lys1404Ter
XM_011510361.2:c.4201A>T	XP_011508663.1:p.Lys1401Ter
XM_017004317.1:c.6409A>T	XP_016859806.1:p.Lys2137Ter
XM_024452961.1:c.5770A>T	XP_024308729.1:p.Lys1924Ter
NM_015909.4:c.6409A>T MANE Select	NP_056993.2:p.Lys2137Ter
NR_052013.3:n.6266+13626A>T