Canonical Allele Identifier: CA42632488

Gene: NBAS

Linked Data

• dbSNP Id: rs886587205
• COSMIC: COSM6222159
• MyVariant Identifiers: chr2:g.15564548T>C (hg19) ; chr2:g.15424424T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424424T>C , CM000664.2:g.15424424T>C	GRCh38
NC_000002.11:g.15564548T>C , CM000664.1:g.15564548T>C	GRCh37
NC_000002.10:g.15481999T>C	NCBI36
NG_032964.1:g.141925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.565A>G
ENST00000700062.1:c.565A>G
ENST00000700065.1:n.2481A>G
ENST00000700066.1:c.1985A>G	ENSP00000514780.1:p.Tyr662Cys
ENST00000281513.10:c.2468A>G MANE Select	ENSP00000281513.5:p.Tyr823Cys
ENST00000281513.9:c.2468A>G	ENSP00000281513.5:p.Tyr823Cys
NM_015909.3:c.2468A>G	NP_056993.2:p.Tyr823Cys
NR_052013.2:n.2512A>G
XM_011510357.1:c.2339A>G	XP_011508659.1:p.Tyr780Cys
XM_011510358.1:c.2468A>G	XP_011508660.1:p.Tyr823Cys
XM_011510359.1:c.1829A>G	XP_011508661.1:p.Tyr610Cys
XM_011510360.1:c.269A>G	XP_011508662.1:p.Tyr90Cys
XM_011510361.1:c.260A>G	XP_011508663.1:p.Tyr87Cys
XM_011510357.2:c.2339A>G	XP_011508659.1:p.Tyr780Cys
XM_011510358.2:c.2468A>G	XP_011508660.1:p.Tyr823Cys
XM_011510360.2:c.269A>G	XP_011508662.1:p.Tyr90Cys
XM_011510361.2:c.260A>G	XP_011508663.1:p.Tyr87Cys
XM_017004317.1:c.2468A>G	XP_016859806.1:p.Tyr823Cys
XM_024452961.1:c.1829A>G	XP_024308729.1:p.Tyr610Cys
NM_015909.4:c.2468A>G MANE Select	NP_056993.2:p.Tyr823Cys
NR_052013.3:n.2498A>G