Canonical Allele Identifier: CA345882048

Gene: NBAS

Linked Data

• dbSNP Id: rs780108348
• gnomAD v4: 2-15402229-G-C
• MyVariant Identifiers: chr2:g.15542353G>C (hg19) ; chr2:g.15402229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402229G>C , CM000664.2:g.15402229G>C	GRCh38
NC_000002.11:g.15542353G>C , CM000664.1:g.15542353G>C	GRCh37
NC_000002.10:g.15459804G>C	NCBI36
NG_032964.1:g.164120C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1107C>G
ENST00000700062.1:c.1107C>G
ENST00000700065.1:n.3023C>G
ENST00000281513.10:c.3010C>G MANE Select	ENSP00000281513.5:p.Arg1004Gly
ENST00000281513.9:c.3010C>G	ENSP00000281513.5:p.Arg1004Gly
ENST00000429842.1:c.302C>G
ENST00000441755.5:c.151C>G	ENSP00000396501.1:p.Arg51Gly
ENST00000442506.5:c.153C>G
NM_015909.3:c.3010C>G	NP_056993.2:p.Arg1004Gly
NR_052013.2:n.3054C>G
XM_011510357.1:c.2881C>G	XP_011508659.1:p.Arg961Gly
XM_011510358.1:c.3010C>G	XP_011508660.1:p.Arg1004Gly
XM_011510359.1:c.2371C>G	XP_011508661.1:p.Arg791Gly
XM_011510360.1:c.811C>G	XP_011508662.1:p.Arg271Gly
XM_011510361.1:c.802C>G	XP_011508663.1:p.Arg268Gly
XM_011510357.2:c.2881C>G	XP_011508659.1:p.Arg961Gly
XM_011510358.2:c.3010C>G	XP_011508660.1:p.Arg1004Gly
XM_011510360.2:c.811C>G	XP_011508662.1:p.Arg271Gly
XM_011510361.2:c.802C>G	XP_011508663.1:p.Arg268Gly
XM_017004317.1:c.3010C>G	XP_016859806.1:p.Arg1004Gly
XM_024452961.1:c.2371C>G	XP_024308729.1:p.Arg791Gly
NM_015909.4:c.3010C>G MANE Select	NP_056993.2:p.Arg1004Gly
NR_052013.3:n.3040C>G