Canonical Allele Identifier: CA345881975

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542336A>T (hg19) ; chr2:g.15402212A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402212A>T , CM000664.2:g.15402212A>T	GRCh38
NC_000002.11:g.15542336A>T , CM000664.1:g.15542336A>T	GRCh37
NC_000002.10:g.15459787A>T	NCBI36
NG_032964.1:g.164137T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1124T>A
ENST00000700062.1:c.1124T>A
ENST00000700065.1:n.3040T>A
ENST00000281513.10:c.3027T>A MANE Select	ENSP00000281513.5:p.Cys1009Ter
ENST00000281513.9:c.3027T>A	ENSP00000281513.5:p.Cys1009Ter
ENST00000429842.1:c.319T>A
ENST00000441755.5:c.168T>A	ENSP00000396501.1:p.Cys56Ter
ENST00000442506.5:c.170T>A
NM_015909.3:c.3027T>A	NP_056993.2:p.Cys1009Ter
NR_052013.2:n.3071T>A
XM_011510357.1:c.2898T>A	XP_011508659.1:p.Cys966Ter
XM_011510358.1:c.3027T>A	XP_011508660.1:p.Cys1009Ter
XM_011510359.1:c.2388T>A	XP_011508661.1:p.Cys796Ter
XM_011510360.1:c.828T>A	XP_011508662.1:p.Cys276Ter
XM_011510361.1:c.819T>A	XP_011508663.1:p.Cys273Ter
XM_011510357.2:c.2898T>A	XP_011508659.1:p.Cys966Ter
XM_011510358.2:c.3027T>A	XP_011508660.1:p.Cys1009Ter
XM_011510360.2:c.828T>A	XP_011508662.1:p.Cys276Ter
XM_011510361.2:c.819T>A	XP_011508663.1:p.Cys273Ter
XM_017004317.1:c.3027T>A	XP_016859806.1:p.Cys1009Ter
XM_024452961.1:c.2388T>A	XP_024308729.1:p.Cys796Ter
NM_015909.4:c.3027T>A MANE Select	NP_056993.2:p.Cys1009Ter
NR_052013.3:n.3057T>A