Canonical Allele Identifier: CA345883807

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218799-G-C
• MyVariant Identifiers: chr2:g.15358923G>C (hg19) ; chr2:g.15218799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218799G>C , CM000664.2:g.15218799G>C	GRCh38
NC_000002.11:g.15358923G>C , CM000664.1:g.15358923G>C	GRCh37
NC_000002.10:g.15276374G>C	NCBI36
NG_032964.1:g.347550C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4392C>G
ENST00000700062.1:c.4426+13623C>G
ENST00000700063.1:c.917C>G
ENST00000700064.1:c.2262C>G
ENST00000281513.10:c.6406C>G MANE Select	ENSP00000281513.5:p.Leu2136Val
ENST00000281513.9:c.6406C>G	ENSP00000281513.5:p.Leu2136Val
ENST00000417461.5:c.512+13623C>G	ENSP00000392421.1:n.512+13623C>G
ENST00000442506.5:c.3549C>G
NM_015909.3:c.6406C>G	NP_056993.2:p.Leu2136Val
NR_052013.2:n.6280+13623C>G
XM_011510357.1:c.6277C>G	XP_011508659.1:p.Leu2093Val
XM_011510358.1:c.6406C>G	XP_011508660.1:p.Leu2136Val
XM_011510359.1:c.5767C>G	XP_011508661.1:p.Leu1923Val
XM_011510360.1:c.4207C>G	XP_011508662.1:p.Leu1403Val
XM_011510361.1:c.4198C>G	XP_011508663.1:p.Leu1400Val
XM_011510357.2:c.6277C>G	XP_011508659.1:p.Leu2093Val
XM_011510358.2:c.6406C>G	XP_011508660.1:p.Leu2136Val
XM_011510360.2:c.4207C>G	XP_011508662.1:p.Leu1403Val
XM_011510361.2:c.4198C>G	XP_011508663.1:p.Leu1400Val
XM_017004317.1:c.6406C>G	XP_016859806.1:p.Leu2136Val
XM_024452961.1:c.5767C>G	XP_024308729.1:p.Leu1923Val
NM_015909.4:c.6406C>G MANE Select	NP_056993.2:p.Leu2136Val
NR_052013.3:n.6266+13623C>G