Canonical Allele Identifier: CA345881999

Gene: NBAS

Linked Data

• gnomAD v4: 2-15402217-G-C
• MyVariant Identifiers: chr2:g.15542341G>C (hg19) ; chr2:g.15402217G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402217G>C , CM000664.2:g.15402217G>C	GRCh38
NC_000002.11:g.15542341G>C , CM000664.1:g.15542341G>C	GRCh37
NC_000002.10:g.15459792G>C	NCBI36
NG_032964.1:g.164132C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1119C>G
ENST00000700062.1:c.1119C>G
ENST00000700065.1:n.3035C>G
ENST00000281513.10:c.3022C>G MANE Select	ENSP00000281513.5:p.Leu1008Val
ENST00000281513.9:c.3022C>G	ENSP00000281513.5:p.Leu1008Val
ENST00000429842.1:c.314C>G
ENST00000441755.5:c.163C>G	ENSP00000396501.1:p.Leu55Val
ENST00000442506.5:c.165C>G
NM_015909.3:c.3022C>G	NP_056993.2:p.Leu1008Val
NR_052013.2:n.3066C>G
XM_011510357.1:c.2893C>G	XP_011508659.1:p.Leu965Val
XM_011510358.1:c.3022C>G	XP_011508660.1:p.Leu1008Val
XM_011510359.1:c.2383C>G	XP_011508661.1:p.Leu795Val
XM_011510360.1:c.823C>G	XP_011508662.1:p.Leu275Val
XM_011510361.1:c.814C>G	XP_011508663.1:p.Leu272Val
XM_011510357.2:c.2893C>G	XP_011508659.1:p.Leu965Val
XM_011510358.2:c.3022C>G	XP_011508660.1:p.Leu1008Val
XM_011510360.2:c.823C>G	XP_011508662.1:p.Leu275Val
XM_011510361.2:c.814C>G	XP_011508663.1:p.Leu272Val
XM_017004317.1:c.3022C>G	XP_016859806.1:p.Leu1008Val
XM_024452961.1:c.2383C>G	XP_024308729.1:p.Leu795Val
NM_015909.4:c.3022C>G MANE Select	NP_056993.2:p.Leu1008Val
NR_052013.3:n.3052C>G