Canonical Allele Identifier: CA345883836

Gene: NBAS

Linked Data

• dbSNP Id: rs1389383242
• MyVariant Identifiers: chr2:g.15358926T>C (hg19) ; chr2:g.15218802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218802T>C , CM000664.2:g.15218802T>C	GRCh38
NC_000002.11:g.15358926T>C , CM000664.1:g.15358926T>C	GRCh37
NC_000002.10:g.15276377T>C	NCBI36
NG_032964.1:g.347547A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4389A>G
ENST00000700062.1:c.4426+13620A>G
ENST00000700063.1:c.914A>G
ENST00000700064.1:c.2259A>G
ENST00000281513.10:c.6403A>G MANE Select	ENSP00000281513.5:p.Ile2135Val
ENST00000281513.9:c.6403A>G	ENSP00000281513.5:p.Ile2135Val
ENST00000417461.5:c.512+13620A>G	ENSP00000392421.1:n.512+13620A>G
ENST00000442506.5:c.3546A>G
NM_015909.3:c.6403A>G	NP_056993.2:p.Ile2135Val
NR_052013.2:n.6280+13620A>G
XM_011510357.1:c.6274A>G	XP_011508659.1:p.Ile2092Val
XM_011510358.1:c.6403A>G	XP_011508660.1:p.Ile2135Val
XM_011510359.1:c.5764A>G	XP_011508661.1:p.Ile1922Val
XM_011510360.1:c.4204A>G	XP_011508662.1:p.Ile1402Val
XM_011510361.1:c.4195A>G	XP_011508663.1:p.Ile1399Val
XM_011510357.2:c.6274A>G	XP_011508659.1:p.Ile2092Val
XM_011510358.2:c.6403A>G	XP_011508660.1:p.Ile2135Val
XM_011510360.2:c.4204A>G	XP_011508662.1:p.Ile1402Val
XM_011510361.2:c.4195A>G	XP_011508663.1:p.Ile1399Val
XM_017004317.1:c.6403A>G	XP_016859806.1:p.Ile2135Val
XM_024452961.1:c.5764A>G	XP_024308729.1:p.Ile1922Val
NM_015909.4:c.6403A>G MANE Select	NP_056993.2:p.Ile2135Val
NR_052013.3:n.6266+13620A>G