Canonical Allele Identifier: CA345882027

Gene: NBAS

Linked Data

• gnomAD v4: 2-15402224-A-C
• MyVariant Identifiers: chr2:g.15542348A>C (hg19) ; chr2:g.15402224A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402224A>C , CM000664.2:g.15402224A>C	GRCh38
NC_000002.11:g.15542348A>C , CM000664.1:g.15542348A>C	GRCh37
NC_000002.10:g.15459799A>C	NCBI36
NG_032964.1:g.164125T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1112T>G
ENST00000700062.1:c.1112T>G
ENST00000700065.1:n.3028T>G
ENST00000281513.10:c.3015T>G MANE Select	ENSP00000281513.5:p.Asn1005Lys
ENST00000281513.9:c.3015T>G	ENSP00000281513.5:p.Asn1005Lys
ENST00000429842.1:c.307T>G
ENST00000441755.5:c.156T>G	ENSP00000396501.1:p.Asn52Lys
ENST00000442506.5:c.158T>G
NM_015909.3:c.3015T>G	NP_056993.2:p.Asn1005Lys
NR_052013.2:n.3059T>G
XM_011510357.1:c.2886T>G	XP_011508659.1:p.Asn962Lys
XM_011510358.1:c.3015T>G	XP_011508660.1:p.Asn1005Lys
XM_011510359.1:c.2376T>G	XP_011508661.1:p.Asn792Lys
XM_011510360.1:c.816T>G	XP_011508662.1:p.Asn272Lys
XM_011510361.1:c.807T>G	XP_011508663.1:p.Asn269Lys
XM_011510357.2:c.2886T>G	XP_011508659.1:p.Asn962Lys
XM_011510358.2:c.3015T>G	XP_011508660.1:p.Asn1005Lys
XM_011510360.2:c.816T>G	XP_011508662.1:p.Asn272Lys
XM_011510361.2:c.807T>G	XP_011508663.1:p.Asn269Lys
XM_017004317.1:c.3015T>G	XP_016859806.1:p.Asn1005Lys
XM_024452961.1:c.2376T>G	XP_024308729.1:p.Asn792Lys
NM_015909.4:c.3015T>G MANE Select	NP_056993.2:p.Asn1005Lys
NR_052013.3:n.3045T>G