Canonical Allele Identifier: CA345889915

Gene: NBAS

Linked Data

• dbSNP Id: rs747173396
• MyVariant Identifiers: chr2:g.15564518C>A (hg19) ; chr2:g.15424394C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424394C>A , CM000664.2:g.15424394C>A	GRCh38
NC_000002.11:g.15564518C>A , CM000664.1:g.15564518C>A	GRCh37
NC_000002.10:g.15481969C>A	NCBI36
NG_032964.1:g.141955G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.595G>T
ENST00000700062.1:c.595G>T
ENST00000700065.1:n.2511G>T
ENST00000700066.1:c.2015G>T	ENSP00000514780.1:p.Arg672Met
ENST00000281513.10:c.2498G>T MANE Select	ENSP00000281513.5:p.Arg833Met
ENST00000281513.9:c.2498G>T	ENSP00000281513.5:p.Arg833Met
ENST00000442506.5:c.1G>T
NM_015909.3:c.2498G>T	NP_056993.2:p.Arg833Met
NR_052013.2:n.2542G>T
XM_011510357.1:c.2369G>T	XP_011508659.1:p.Arg790Met
XM_011510358.1:c.2498G>T	XP_011508660.1:p.Arg833Met
XM_011510359.1:c.1859G>T	XP_011508661.1:p.Arg620Met
XM_011510360.1:c.299G>T	XP_011508662.1:p.Arg100Met
XM_011510361.1:c.290G>T	XP_011508663.1:p.Arg97Met
XM_011510357.2:c.2369G>T	XP_011508659.1:p.Arg790Met
XM_011510358.2:c.2498G>T	XP_011508660.1:p.Arg833Met
XM_011510360.2:c.299G>T	XP_011508662.1:p.Arg100Met
XM_011510361.2:c.290G>T	XP_011508663.1:p.Arg97Met
XM_017004317.1:c.2498G>T	XP_016859806.1:p.Arg833Met
XM_024452961.1:c.1859G>T	XP_024308729.1:p.Arg620Met
NM_015909.4:c.2498G>T MANE Select	NP_056993.2:p.Arg833Met
NR_052013.3:n.2528G>T