Canonical Allele Identifier: CA345883828

Gene: NBAS

Linked Data

• dbSNP Id: rs1389383242
• gnomAD v2: 2-15358926-T-A
• MyVariant Identifiers: chr2:g.15358926T>A (hg19) ; chr2:g.15218802T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218802T>A , CM000664.2:g.15218802T>A	GRCh38
NC_000002.11:g.15358926T>A , CM000664.1:g.15358926T>A	GRCh37
NC_000002.10:g.15276377T>A	NCBI36
NG_032964.1:g.347547A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4389A>T
ENST00000700062.1:c.4426+13620A>T
ENST00000700063.1:c.914A>T
ENST00000700064.1:c.2259A>T
ENST00000281513.10:c.6403A>T MANE Select	ENSP00000281513.5:p.Ile2135Phe
ENST00000281513.9:c.6403A>T	ENSP00000281513.5:p.Ile2135Phe
ENST00000417461.5:c.512+13620A>T	ENSP00000392421.1:n.512+13620A>T
ENST00000442506.5:c.3546A>T
NM_015909.3:c.6403A>T	NP_056993.2:p.Ile2135Phe
NR_052013.2:n.6280+13620A>T
XM_011510357.1:c.6274A>T	XP_011508659.1:p.Ile2092Phe
XM_011510358.1:c.6403A>T	XP_011508660.1:p.Ile2135Phe
XM_011510359.1:c.5764A>T	XP_011508661.1:p.Ile1922Phe
XM_011510360.1:c.4204A>T	XP_011508662.1:p.Ile1402Phe
XM_011510361.1:c.4195A>T	XP_011508663.1:p.Ile1399Phe
XM_011510357.2:c.6274A>T	XP_011508659.1:p.Ile2092Phe
XM_011510358.2:c.6403A>T	XP_011508660.1:p.Ile2135Phe
XM_011510360.2:c.4204A>T	XP_011508662.1:p.Ile1402Phe
XM_011510361.2:c.4195A>T	XP_011508663.1:p.Ile1399Phe
XM_017004317.1:c.6403A>T	XP_016859806.1:p.Ile2135Phe
XM_024452961.1:c.5764A>T	XP_024308729.1:p.Ile1922Phe
NM_015909.4:c.6403A>T MANE Select	NP_056993.2:p.Ile2135Phe
NR_052013.3:n.6266+13620A>T