Canonical Allele Identifier: CA345883917

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218817-A-G
• MyVariant Identifiers: chr2:g.15358941A>G (hg19) ; chr2:g.15218817A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218817A>G , CM000664.2:g.15218817A>G	GRCh38
NC_000002.11:g.15358941A>G , CM000664.1:g.15358941A>G	GRCh37
NC_000002.10:g.15276392A>G	NCBI36
NG_032964.1:g.347532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4374T>C
ENST00000700062.1:c.4426+13605T>C
ENST00000700063.1:c.899T>C
ENST00000700064.1:c.2244T>C
ENST00000281513.10:c.6388T>C MANE Select	ENSP00000281513.5:p.Phe2130Leu
ENST00000281513.9:c.6388T>C	ENSP00000281513.5:p.Phe2130Leu
ENST00000417461.5:c.512+13605T>C	ENSP00000392421.1:n.512+13605T>C
ENST00000442506.5:c.3531T>C
NM_015909.3:c.6388T>C	NP_056993.2:p.Phe2130Leu
NR_052013.2:n.6280+13605T>C
XM_011510357.1:c.6259T>C	XP_011508659.1:p.Phe2087Leu
XM_011510358.1:c.6388T>C	XP_011508660.1:p.Phe2130Leu
XM_011510359.1:c.5749T>C	XP_011508661.1:p.Phe1917Leu
XM_011510360.1:c.4189T>C	XP_011508662.1:p.Phe1397Leu
XM_011510361.1:c.4180T>C	XP_011508663.1:p.Phe1394Leu
XM_011510357.2:c.6259T>C	XP_011508659.1:p.Phe2087Leu
XM_011510358.2:c.6388T>C	XP_011508660.1:p.Phe2130Leu
XM_011510360.2:c.4189T>C	XP_011508662.1:p.Phe1397Leu
XM_011510361.2:c.4180T>C	XP_011508663.1:p.Phe1394Leu
XM_017004317.1:c.6388T>C	XP_016859806.1:p.Phe2130Leu
XM_024452961.1:c.5749T>C	XP_024308729.1:p.Phe1917Leu
NM_015909.4:c.6388T>C MANE Select	NP_056993.2:p.Phe2130Leu
NR_052013.3:n.6266+13605T>C