Canonical Allele Identifier: CA345889866

Gene: NBAS

Linked Data

• dbSNP Id: rs1677361700
• gnomAD v3: 2-15424389-T-A
• gnomAD v4: 2-15424389-T-A
• MyVariant Identifiers: chr2:g.15564513T>A (hg19) ; chr2:g.15424389T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424389T>A , CM000664.2:g.15424389T>A	GRCh38
NC_000002.11:g.15564513T>A , CM000664.1:g.15564513T>A	GRCh37
NC_000002.10:g.15481964T>A	NCBI36
NG_032964.1:g.141960A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.600A>T
ENST00000700062.1:c.600A>T
ENST00000700065.1:n.2516A>T
ENST00000700066.1:c.2020A>T	ENSP00000514780.1:p.Thr674Ser
ENST00000281513.10:c.2503A>T MANE Select	ENSP00000281513.5:p.Thr835Ser
ENST00000281513.9:c.2503A>T	ENSP00000281513.5:p.Thr835Ser
ENST00000441755.5:c.4A>T	ENSP00000396501.1:p.Thr2Ser
ENST00000442506.5:c.6A>T
NM_015909.3:c.2503A>T	NP_056993.2:p.Thr835Ser
NR_052013.2:n.2547A>T
XM_011510357.1:c.2374A>T	XP_011508659.1:p.Thr792Ser
XM_011510358.1:c.2503A>T	XP_011508660.1:p.Thr835Ser
XM_011510359.1:c.1864A>T	XP_011508661.1:p.Thr622Ser
XM_011510360.1:c.304A>T	XP_011508662.1:p.Thr102Ser
XM_011510361.1:c.295A>T	XP_011508663.1:p.Thr99Ser
XM_011510357.2:c.2374A>T	XP_011508659.1:p.Thr792Ser
XM_011510358.2:c.2503A>T	XP_011508660.1:p.Thr835Ser
XM_011510360.2:c.304A>T	XP_011508662.1:p.Thr102Ser
XM_011510361.2:c.295A>T	XP_011508663.1:p.Thr99Ser
XM_017004317.1:c.2503A>T	XP_016859806.1:p.Thr835Ser
XM_024452961.1:c.1864A>T	XP_024308729.1:p.Thr622Ser
NM_015909.4:c.2503A>T MANE Select	NP_056993.2:p.Thr835Ser
NR_052013.3:n.2533A>T