Canonical Allele Identifier: CA1535020

Gene: NBAS

Linked Data

• ClinVar Variation Id: 722924
• ClinVar RCV Id: RCV000896621 ; RCV003920846
• dbSNP Id: rs114448506
• ExAC: 2:15358939 A / C
• gnomAD v2: 2-15358939-A-C
• gnomAD v3: 2-15218815-A-C
• gnomAD v4: 2-15218815-A-C
• MyVariant Identifiers: chr2:g.15358939A>C (hg19) ; chr2:g.15218815A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218815A>C , CM000664.2:g.15218815A>C	GRCh38
NC_000002.11:g.15358939A>C , CM000664.1:g.15358939A>C	GRCh37
NC_000002.10:g.15276390A>C	NCBI36
NG_032964.1:g.347534T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4376T>G
ENST00000700062.1:c.4426+13607T>G
ENST00000700063.1:c.901T>G
ENST00000700064.1:c.2246T>G
ENST00000281513.10:c.6390T>G MANE Select	ENSP00000281513.5:p.Phe2130Leu
ENST00000281513.9:c.6390T>G	ENSP00000281513.5:p.Phe2130Leu
ENST00000417461.5:c.512+13607T>G	ENSP00000392421.1:n.512+13607T>G
ENST00000442506.5:c.3533T>G
NM_015909.3:c.6390T>G	NP_056993.2:p.Phe2130Leu
NR_052013.2:n.6280+13607T>G
XM_011510357.1:c.6261T>G	XP_011508659.1:p.Phe2087Leu
XM_011510358.1:c.6390T>G	XP_011508660.1:p.Phe2130Leu
XM_011510359.1:c.5751T>G	XP_011508661.1:p.Phe1917Leu
XM_011510360.1:c.4191T>G	XP_011508662.1:p.Phe1397Leu
XM_011510361.1:c.4182T>G	XP_011508663.1:p.Phe1394Leu
XM_011510357.2:c.6261T>G	XP_011508659.1:p.Phe2087Leu
XM_011510358.2:c.6390T>G	XP_011508660.1:p.Phe2130Leu
XM_011510360.2:c.4191T>G	XP_011508662.1:p.Phe1397Leu
XM_011510361.2:c.4182T>G	XP_011508663.1:p.Phe1394Leu
XM_017004317.1:c.6390T>G	XP_016859806.1:p.Phe2130Leu
XM_024452961.1:c.5751T>G	XP_024308729.1:p.Phe1917Leu
NM_015909.4:c.6390T>G MANE Select	NP_056993.2:p.Phe2130Leu
NR_052013.3:n.6266+13607T>G