Canonical Allele Identifier: CA424870571

Gene: NBAS

Linked Data

• ClinVar Variation Id: 2805950
• ClinVar RCV Id: RCV003679482
• gnomAD v4: 2-15424407-A-G
• MyVariant Identifiers: chr2:g.15564531A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424407A>G , CM000664.2:g.15424407A>G	GRCh38
NC_000002.11:g.15564531A>G , CM000664.1:g.15564531A>G	GRCh37
NC_000002.10:g.15481982A>G	NCBI36
NG_032964.1:g.141942T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.582T>C
ENST00000700062.1:c.582T>C
ENST00000700065.1:n.2498T>C
ENST00000700066.1:c.2002T>C	ENSP00000514780.1:p.Leu668=
ENST00000281513.10:c.2485T>C MANE Select	ENSP00000281513.5:p.Leu829=
ENST00000281513.9:c.2485T>C	ENSP00000281513.5:p.Leu829=
NM_015909.3:c.2485T>C	NP_056993.2:p.Leu829=
NR_052013.2:n.2529T>C
XM_011510357.1:c.2356T>C	XP_011508659.1:p.Leu786=
XM_011510358.1:c.2485T>C	XP_011508660.1:p.Leu829=
XM_011510359.1:c.1846T>C	XP_011508661.1:p.Leu616=
XM_011510360.1:c.286T>C	XP_011508662.1:p.Leu96=
XM_011510361.1:c.277T>C	XP_011508663.1:p.Leu93=
XM_011510357.2:c.2356T>C	XP_011508659.1:p.Leu786=
XM_011510358.2:c.2485T>C	XP_011508660.1:p.Leu829=
XM_011510360.2:c.286T>C	XP_011508662.1:p.Leu96=
XM_011510361.2:c.277T>C	XP_011508663.1:p.Leu93=
XM_017004317.1:c.2485T>C	XP_016859806.1:p.Leu829=
XM_024452961.1:c.1846T>C	XP_024308729.1:p.Leu616=
NM_015909.4:c.2485T>C MANE Select	NP_056993.2:p.Leu829=
NR_052013.3:n.2515T>C