Canonical Allele Identifier: CA1535030

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1605464
• ClinVar RCV Id: RCV002137261
• dbSNP Id: rs372939183
• ExAC: 2:15358984 T / C
• gnomAD v2: 2-15358984-T-C
• gnomAD v3: 2-15218860-T-C
• gnomAD v4: 2-15218860-T-C
• MyVariant Identifiers: chr2:g.15358984T>C (hg19) ; chr2:g.15218860T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218860T>C , CM000664.2:g.15218860T>C	GRCh38
NC_000002.11:g.15358984T>C , CM000664.1:g.15358984T>C	GRCh37
NC_000002.10:g.15276435T>C	NCBI36
NG_032964.1:g.347489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4331A>G
ENST00000700062.1:c.4426+13562A>G
ENST00000700063.1:c.856A>G
ENST00000700064.1:c.2201A>G
ENST00000281513.10:c.6345A>G MANE Select	ENSP00000281513.5:p.Gln2115=
ENST00000281513.9:c.6345A>G	ENSP00000281513.5:p.Gln2115=
ENST00000417461.5:c.512+13562A>G	ENSP00000392421.1:n.512+13562A>G
ENST00000442506.5:c.3488A>G
NM_015909.3:c.6345A>G	NP_056993.2:p.Gln2115=
NR_052013.2:n.6280+13562A>G
XM_011510357.1:c.6216A>G	XP_011508659.1:p.Gln2072=
XM_011510358.1:c.6345A>G	XP_011508660.1:p.Gln2115=
XM_011510359.1:c.5706A>G	XP_011508661.1:p.Gln1902=
XM_011510360.1:c.4146A>G	XP_011508662.1:p.Gln1382=
XM_011510361.1:c.4137A>G	XP_011508663.1:p.Gln1379=
XM_011510357.2:c.6216A>G	XP_011508659.1:p.Gln2072=
XM_011510358.2:c.6345A>G	XP_011508660.1:p.Gln2115=
XM_011510360.2:c.4146A>G	XP_011508662.1:p.Gln1382=
XM_011510361.2:c.4137A>G	XP_011508663.1:p.Gln1379=
XM_017004317.1:c.6345A>G	XP_016859806.1:p.Gln2115=
XM_024452961.1:c.5706A>G	XP_024308729.1:p.Gln1902=
NM_015909.4:c.6345A>G MANE Select	NP_056993.2:p.Gln2115=
NR_052013.3:n.6266+13562A>G