Canonical Allele Identifier: CA424866909

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218797-G-A
• MyVariant Identifiers: chr2:g.15358921G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218797G>A , CM000664.2:g.15218797G>A	GRCh38
NC_000002.11:g.15358921G>A , CM000664.1:g.15358921G>A	GRCh37
NC_000002.10:g.15276372G>A	NCBI36
NG_032964.1:g.347552C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4394C>T
ENST00000700062.1:c.4426+13625C>T
ENST00000700063.1:c.919C>T
ENST00000700064.1:c.2264C>T
ENST00000281513.10:c.6408C>T MANE Select	ENSP00000281513.5:p.Leu2136=
ENST00000281513.9:c.6408C>T	ENSP00000281513.5:p.Leu2136=
ENST00000417461.5:c.512+13625C>T	ENSP00000392421.1:n.512+13625C>T
ENST00000442506.5:c.3551C>T
NM_015909.3:c.6408C>T	NP_056993.2:p.Leu2136=
NR_052013.2:n.6280+13625C>T
XM_011510357.1:c.6279C>T	XP_011508659.1:p.Leu2093=
XM_011510358.1:c.6408C>T	XP_011508660.1:p.Leu2136=
XM_011510359.1:c.5769C>T	XP_011508661.1:p.Leu1923=
XM_011510360.1:c.4209C>T	XP_011508662.1:p.Leu1403=
XM_011510361.1:c.4200C>T	XP_011508663.1:p.Leu1400=
XM_011510357.2:c.6279C>T	XP_011508659.1:p.Leu2093=
XM_011510358.2:c.6408C>T	XP_011508660.1:p.Leu2136=
XM_011510360.2:c.4209C>T	XP_011508662.1:p.Leu1403=
XM_011510361.2:c.4200C>T	XP_011508663.1:p.Leu1400=
XM_017004317.1:c.6408C>T	XP_016859806.1:p.Leu2136=
XM_024452961.1:c.5769C>T	XP_024308729.1:p.Leu1923=
NM_015909.4:c.6408C>T MANE Select	NP_056993.2:p.Leu2136=
NR_052013.3:n.6266+13625C>T