Canonical Allele Identifier: CA345889841

Gene: NBAS

Linked Data

• gnomAD v4: 2-15424388-G-C
• MyVariant Identifiers: chr2:g.15564512G>C (hg19) ; chr2:g.15424388G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424388G>C , CM000664.2:g.15424388G>C	GRCh38
NC_000002.11:g.15564512G>C , CM000664.1:g.15564512G>C	GRCh37
NC_000002.10:g.15481963G>C	NCBI36
NG_032964.1:g.141961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.601C>G
ENST00000700062.1:c.601C>G
ENST00000700065.1:n.2517C>G
ENST00000700066.1:c.2021C>G	ENSP00000514780.1:p.Thr674Ser
ENST00000281513.10:c.2504C>G MANE Select	ENSP00000281513.5:p.Thr835Ser
ENST00000281513.9:c.2504C>G	ENSP00000281513.5:p.Thr835Ser
ENST00000441755.5:c.5C>G	ENSP00000396501.1:p.Thr2Ser
ENST00000442506.5:c.7C>G
NM_015909.3:c.2504C>G	NP_056993.2:p.Thr835Ser
NR_052013.2:n.2548C>G
XM_011510357.1:c.2375C>G	XP_011508659.1:p.Thr792Ser
XM_011510358.1:c.2504C>G	XP_011508660.1:p.Thr835Ser
XM_011510359.1:c.1865C>G	XP_011508661.1:p.Thr622Ser
XM_011510360.1:c.305C>G	XP_011508662.1:p.Thr102Ser
XM_011510361.1:c.296C>G	XP_011508663.1:p.Thr99Ser
XM_011510357.2:c.2375C>G	XP_011508659.1:p.Thr792Ser
XM_011510358.2:c.2504C>G	XP_011508660.1:p.Thr835Ser
XM_011510360.2:c.305C>G	XP_011508662.1:p.Thr102Ser
XM_011510361.2:c.296C>G	XP_011508663.1:p.Thr99Ser
XM_017004317.1:c.2504C>G	XP_016859806.1:p.Thr835Ser
XM_024452961.1:c.1865C>G	XP_024308729.1:p.Thr622Ser
NM_015909.4:c.2504C>G MANE Select	NP_056993.2:p.Thr835Ser
NR_052013.3:n.2534C>G