Canonical Allele Identifier: CA345889914

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564517C>G (hg19) ; chr2:g.15424393C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424393C>G , CM000664.2:g.15424393C>G	GRCh38
NC_000002.11:g.15564517C>G , CM000664.1:g.15564517C>G	GRCh37
NC_000002.10:g.15481968C>G	NCBI36
NG_032964.1:g.141956G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.596G>C
ENST00000700062.1:c.596G>C
ENST00000700065.1:n.2512G>C
ENST00000700066.1:c.2016G>C	ENSP00000514780.1:p.Arg672Ser
ENST00000281513.10:c.2499G>C MANE Select	ENSP00000281513.5:p.Arg833Ser
ENST00000281513.9:c.2499G>C	ENSP00000281513.5:p.Arg833Ser
ENST00000442506.5:c.2G>C
NM_015909.3:c.2499G>C	NP_056993.2:p.Arg833Ser
NR_052013.2:n.2543G>C
XM_011510357.1:c.2370G>C	XP_011508659.1:p.Arg790Ser
XM_011510358.1:c.2499G>C	XP_011508660.1:p.Arg833Ser
XM_011510359.1:c.1860G>C	XP_011508661.1:p.Arg620Ser
XM_011510360.1:c.300G>C	XP_011508662.1:p.Arg100Ser
XM_011510361.1:c.291G>C	XP_011508663.1:p.Arg97Ser
XM_011510357.2:c.2370G>C	XP_011508659.1:p.Arg790Ser
XM_011510358.2:c.2499G>C	XP_011508660.1:p.Arg833Ser
XM_011510360.2:c.300G>C	XP_011508662.1:p.Arg100Ser
XM_011510361.2:c.291G>C	XP_011508663.1:p.Arg97Ser
XM_017004317.1:c.2499G>C	XP_016859806.1:p.Arg833Ser
XM_024452961.1:c.1860G>C	XP_024308729.1:p.Arg620Ser
NM_015909.4:c.2499G>C MANE Select	NP_056993.2:p.Arg833Ser
NR_052013.3:n.2529G>C