Canonical Allele Identifier: CA1535041

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1299256
• ClinVar RCV Id: RCV001725881
• dbSNP Id: rs773412024
• ExAC: 2:15359018 C / T
• gnomAD v2: 2-15359018-C-T
• gnomAD v3: 2-15218894-C-T
• gnomAD v4: 2-15218894-C-T
• MyVariant Identifiers: chr2:g.15359018C>T (hg19) ; chr2:g.15218894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218894C>T , CM000664.2:g.15218894C>T	GRCh38
NC_000002.11:g.15359018C>T , CM000664.1:g.15359018C>T	GRCh37
NC_000002.10:g.15276469C>T	NCBI36
NG_032964.1:g.347455G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4297G>A
ENST00000700062.1:c.4426+13528G>A
ENST00000700063.1:c.822G>A
ENST00000700064.1:c.2167G>A
ENST00000281513.10:c.6311G>A MANE Select	ENSP00000281513.5:p.Arg2104Gln
ENST00000281513.9:c.6311G>A	ENSP00000281513.5:p.Arg2104Gln
ENST00000417461.5:c.512+13528G>A	ENSP00000392421.1:n.512+13528G>A
ENST00000442506.5:c.3454G>A
NM_015909.3:c.6311G>A	NP_056993.2:p.Arg2104Gln
NR_052013.2:n.6280+13528G>A
XM_011510357.1:c.6182G>A	XP_011508659.1:p.Arg2061Gln
XM_011510358.1:c.6311G>A	XP_011508660.1:p.Arg2104Gln
XM_011510359.1:c.5672G>A	XP_011508661.1:p.Arg1891Gln
XM_011510360.1:c.4112G>A	XP_011508662.1:p.Arg1371Gln
XM_011510361.1:c.4103G>A	XP_011508663.1:p.Arg1368Gln
XM_011510357.2:c.6182G>A	XP_011508659.1:p.Arg2061Gln
XM_011510358.2:c.6311G>A	XP_011508660.1:p.Arg2104Gln
XM_011510360.2:c.4112G>A	XP_011508662.1:p.Arg1371Gln
XM_011510361.2:c.4103G>A	XP_011508663.1:p.Arg1368Gln
XM_017004317.1:c.6311G>A	XP_016859806.1:p.Arg2104Gln
XM_024452961.1:c.5672G>A	XP_024308729.1:p.Arg1891Gln
NM_015909.4:c.6311G>A MANE Select	NP_056993.2:p.Arg2104Gln
NR_052013.3:n.6266+13528G>A