Canonical Allele Identifier: CA345882402

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1508030
• ClinVar RCV Id: RCV002009649
• dbSNP Id: rs2148429820
• gnomAD v4: 2-15402283-G-T
• MyVariant Identifiers: chr2:g.15542407G>T (hg19) ; chr2:g.15402283G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402283G>T , CM000664.2:g.15402283G>T	GRCh38
NC_000002.11:g.15542407G>T , CM000664.1:g.15542407G>T	GRCh37
NC_000002.10:g.15459858G>T	NCBI36
NG_032964.1:g.164066C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1053C>A
ENST00000700062.1:c.1053C>A
ENST00000700065.1:n.2969C>A
ENST00000281513.10:c.2956C>A MANE Select	ENSP00000281513.5:p.Pro986Thr
ENST00000281513.9:c.2956C>A	ENSP00000281513.5:p.Pro986Thr
ENST00000429842.1:c.248C>A
ENST00000441755.5:c.97C>A	ENSP00000396501.1:p.Pro33Thr
ENST00000442506.5:c.99C>A
NM_015909.3:c.2956C>A	NP_056993.2:p.Pro986Thr
NR_052013.2:n.3000C>A
XM_011510357.1:c.2827C>A	XP_011508659.1:p.Pro943Thr
XM_011510358.1:c.2956C>A	XP_011508660.1:p.Pro986Thr
XM_011510359.1:c.2317C>A	XP_011508661.1:p.Pro773Thr
XM_011510360.1:c.757C>A	XP_011508662.1:p.Pro253Thr
XM_011510361.1:c.748C>A	XP_011508663.1:p.Pro250Thr
XM_011510357.2:c.2827C>A	XP_011508659.1:p.Pro943Thr
XM_011510358.2:c.2956C>A	XP_011508660.1:p.Pro986Thr
XM_011510360.2:c.757C>A	XP_011508662.1:p.Pro253Thr
XM_011510361.2:c.748C>A	XP_011508663.1:p.Pro250Thr
XM_017004317.1:c.2956C>A	XP_016859806.1:p.Pro986Thr
XM_024452961.1:c.2317C>A	XP_024308729.1:p.Pro773Thr
NM_015909.4:c.2956C>A MANE Select	NP_056993.2:p.Pro986Thr
NR_052013.3:n.2986C>A