Canonical Allele Identifier: CA345881961

Gene: NBAS

Linked Data

• dbSNP Id: rs1442910328
• gnomAD v2: 2-15542332-A-G
• gnomAD v4: 2-15402208-A-G
• MyVariant Identifiers: chr2:g.15542332A>G (hg19) ; chr2:g.15402208A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402208A>G , CM000664.2:g.15402208A>G	GRCh38
NC_000002.11:g.15542332A>G , CM000664.1:g.15542332A>G	GRCh37
NC_000002.10:g.15459783A>G	NCBI36
NG_032964.1:g.164141T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1128T>C
ENST00000700062.1:c.1128T>C
ENST00000700065.1:n.3044T>C
ENST00000281513.10:c.3031T>C MANE Select	ENSP00000281513.5:p.Cys1011Arg
ENST00000281513.9:c.3031T>C	ENSP00000281513.5:p.Cys1011Arg
ENST00000429842.1:c.323T>C
ENST00000441755.5:c.172T>C	ENSP00000396501.1:p.Cys58Arg
ENST00000442506.5:c.174T>C
NM_015909.3:c.3031T>C	NP_056993.2:p.Cys1011Arg
NR_052013.2:n.3075T>C
XM_011510357.1:c.2902T>C	XP_011508659.1:p.Cys968Arg
XM_011510358.1:c.3031T>C	XP_011508660.1:p.Cys1011Arg
XM_011510359.1:c.2392T>C	XP_011508661.1:p.Cys798Arg
XM_011510360.1:c.832T>C	XP_011508662.1:p.Cys278Arg
XM_011510361.1:c.823T>C	XP_011508663.1:p.Cys275Arg
XM_011510357.2:c.2902T>C	XP_011508659.1:p.Cys968Arg
XM_011510358.2:c.3031T>C	XP_011508660.1:p.Cys1011Arg
XM_011510360.2:c.832T>C	XP_011508662.1:p.Cys278Arg
XM_011510361.2:c.823T>C	XP_011508663.1:p.Cys275Arg
XM_017004317.1:c.3031T>C	XP_016859806.1:p.Cys1011Arg
XM_024452961.1:c.2392T>C	XP_024308729.1:p.Cys798Arg
NM_015909.4:c.3031T>C MANE Select	NP_056993.2:p.Cys1011Arg
NR_052013.3:n.3061T>C