Canonical Allele Identifier: CA345889837

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564510G>C (hg19) ; chr2:g.15424386G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424386G>C , CM000664.2:g.15424386G>C	GRCh38
NC_000002.11:g.15564510G>C , CM000664.1:g.15564510G>C	GRCh37
NC_000002.10:g.15481961G>C	NCBI36
NG_032964.1:g.141963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.603C>G
ENST00000700062.1:c.603C>G
ENST00000700065.1:n.2519C>G
ENST00000700066.1:c.2023C>G	ENSP00000514780.1:p.Gln675Glu
ENST00000281513.10:c.2506C>G MANE Select	ENSP00000281513.5:p.Gln836Glu
ENST00000281513.9:c.2506C>G	ENSP00000281513.5:p.Gln836Glu
ENST00000441755.5:c.7C>G	ENSP00000396501.1:p.Gln3Glu
ENST00000442506.5:c.9C>G
NM_015909.3:c.2506C>G	NP_056993.2:p.Gln836Glu
NR_052013.2:n.2550C>G
XM_011510357.1:c.2377C>G	XP_011508659.1:p.Gln793Glu
XM_011510358.1:c.2506C>G	XP_011508660.1:p.Gln836Glu
XM_011510359.1:c.1867C>G	XP_011508661.1:p.Gln623Glu
XM_011510360.1:c.307C>G	XP_011508662.1:p.Gln103Glu
XM_011510361.1:c.298C>G	XP_011508663.1:p.Gln100Glu
XM_011510357.2:c.2377C>G	XP_011508659.1:p.Gln793Glu
XM_011510358.2:c.2506C>G	XP_011508660.1:p.Gln836Glu
XM_011510360.2:c.307C>G	XP_011508662.1:p.Gln103Glu
XM_011510361.2:c.298C>G	XP_011508663.1:p.Gln100Glu
XM_017004317.1:c.2506C>G	XP_016859806.1:p.Gln836Glu
XM_024452961.1:c.1867C>G	XP_024308729.1:p.Gln623Glu
NM_015909.4:c.2506C>G MANE Select	NP_056993.2:p.Gln836Glu
NR_052013.3:n.2536C>G