Canonical Allele Identifier: CA345884183

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358964T>A (hg19) ; chr2:g.15218840T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218840T>A , CM000664.2:g.15218840T>A	GRCh38
NC_000002.11:g.15358964T>A , CM000664.1:g.15358964T>A	GRCh37
NC_000002.10:g.15276415T>A	NCBI36
NG_032964.1:g.347509A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4351A>T
ENST00000700062.1:c.4426+13582A>T
ENST00000700063.1:c.876A>T
ENST00000700064.1:c.2221A>T
ENST00000281513.10:c.6365A>T MANE Select	ENSP00000281513.5:p.Glu2122Val
ENST00000281513.9:c.6365A>T	ENSP00000281513.5:p.Glu2122Val
ENST00000417461.5:c.512+13582A>T	ENSP00000392421.1:n.512+13582A>T
ENST00000442506.5:c.3508A>T
NM_015909.3:c.6365A>T	NP_056993.2:p.Glu2122Val
NR_052013.2:n.6280+13582A>T
XM_011510357.1:c.6236A>T	XP_011508659.1:p.Glu2079Val
XM_011510358.1:c.6365A>T	XP_011508660.1:p.Glu2122Val
XM_011510359.1:c.5726A>T	XP_011508661.1:p.Glu1909Val
XM_011510360.1:c.4166A>T	XP_011508662.1:p.Glu1389Val
XM_011510361.1:c.4157A>T	XP_011508663.1:p.Glu1386Val
XM_011510357.2:c.6236A>T	XP_011508659.1:p.Glu2079Val
XM_011510358.2:c.6365A>T	XP_011508660.1:p.Glu2122Val
XM_011510360.2:c.4166A>T	XP_011508662.1:p.Glu1389Val
XM_011510361.2:c.4157A>T	XP_011508663.1:p.Glu1386Val
XM_017004317.1:c.6365A>T	XP_016859806.1:p.Glu2122Val
XM_024452961.1:c.5726A>T	XP_024308729.1:p.Glu1909Val
NM_015909.4:c.6365A>T MANE Select	NP_056993.2:p.Glu2122Val
NR_052013.3:n.6266+13582A>T