Canonical Allele Identifier: CA345890168

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1361126
• ClinVar RCV Id: RCV001907370
• dbSNP Id: rs2148478179
• gnomAD v4: 2-15424436-C-A
• MyVariant Identifiers: chr2:g.15564560C>A (hg19) ; chr2:g.15424436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424436C>A , CM000664.2:g.15424436C>A	GRCh38
NC_000002.11:g.15564560C>A , CM000664.1:g.15564560C>A	GRCh37
NC_000002.10:g.15482011C>A	NCBI36
NG_032964.1:g.141913G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.553G>T
ENST00000700062.1:c.553G>T
ENST00000700065.1:n.2469G>T
ENST00000700066.1:c.1973G>T	ENSP00000514780.1:p.Ser658Ile
ENST00000281513.10:c.2456G>T MANE Select	ENSP00000281513.5:p.Ser819Ile
ENST00000281513.9:c.2456G>T	ENSP00000281513.5:p.Ser819Ile
NM_015909.3:c.2456G>T	NP_056993.2:p.Ser819Ile
NR_052013.2:n.2500G>T
XM_011510357.1:c.2327G>T	XP_011508659.1:p.Ser776Ile
XM_011510358.1:c.2456G>T	XP_011508660.1:p.Ser819Ile
XM_011510359.1:c.1817G>T	XP_011508661.1:p.Ser606Ile
XM_011510360.1:c.257G>T	XP_011508662.1:p.Ser86Ile
XM_011510361.1:c.248G>T	XP_011508663.1:p.Ser83Ile
XM_011510357.2:c.2327G>T	XP_011508659.1:p.Ser776Ile
XM_011510358.2:c.2456G>T	XP_011508660.1:p.Ser819Ile
XM_011510360.2:c.257G>T	XP_011508662.1:p.Ser86Ile
XM_011510361.2:c.248G>T	XP_011508663.1:p.Ser83Ile
XM_017004317.1:c.2456G>T	XP_016859806.1:p.Ser819Ile
XM_024452961.1:c.1817G>T	XP_024308729.1:p.Ser606Ile
NM_015909.4:c.2456G>T MANE Select	NP_056993.2:p.Ser819Ile
NR_052013.3:n.2486G>T