Canonical Allele Identifier: CA345882476

Gene: NBAS

Linked Data

• dbSNP Id: rs1676195063
• gnomAD v3: 2-15402295-G-C
• gnomAD v4: 2-15402295-G-C
• MyVariant Identifiers: chr2:g.15542419G>C (hg19) ; chr2:g.15402295G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402295G>C , CM000664.2:g.15402295G>C	GRCh38
NC_000002.11:g.15542419G>C , CM000664.1:g.15542419G>C	GRCh37
NC_000002.10:g.15459870G>C	NCBI36
NG_032964.1:g.164054C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1041C>G
ENST00000700062.1:c.1041C>G
ENST00000700065.1:n.2957C>G
ENST00000281513.10:c.2944C>G MANE Select	ENSP00000281513.5:p.Gln982Glu
ENST00000281513.9:c.2944C>G	ENSP00000281513.5:p.Gln982Glu
ENST00000429842.1:c.236C>G
ENST00000441755.5:c.85C>G	ENSP00000396501.1:p.Gln29Glu
ENST00000442506.5:c.87C>G
NM_015909.3:c.2944C>G	NP_056993.2:p.Gln982Glu
NR_052013.2:n.2988C>G
XM_011510357.1:c.2815C>G	XP_011508659.1:p.Gln939Glu
XM_011510358.1:c.2944C>G	XP_011508660.1:p.Gln982Glu
XM_011510359.1:c.2305C>G	XP_011508661.1:p.Gln769Glu
XM_011510360.1:c.745C>G	XP_011508662.1:p.Gln249Glu
XM_011510361.1:c.736C>G	XP_011508663.1:p.Gln246Glu
XM_011510357.2:c.2815C>G	XP_011508659.1:p.Gln939Glu
XM_011510358.2:c.2944C>G	XP_011508660.1:p.Gln982Glu
XM_011510360.2:c.745C>G	XP_011508662.1:p.Gln249Glu
XM_011510361.2:c.736C>G	XP_011508663.1:p.Gln246Glu
XM_017004317.1:c.2944C>G	XP_016859806.1:p.Gln982Glu
XM_024452961.1:c.2305C>G	XP_024308729.1:p.Gln769Glu
NM_015909.4:c.2944C>G MANE Select	NP_056993.2:p.Gln982Glu
NR_052013.3:n.2974C>G