Canonical Allele Identifier: CA345884809

Gene: NBAS

Linked Data

• dbSNP Id: rs1311004174
• gnomAD v3: 2-15218904-A-G
• gnomAD v4: 2-15218904-A-G
• MyVariant Identifiers: chr2:g.15359028A>G (hg19) ; chr2:g.15218904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218904A>G , CM000664.2:g.15218904A>G	GRCh38
NC_000002.11:g.15359028A>G , CM000664.1:g.15359028A>G	GRCh37
NC_000002.10:g.15276479A>G	NCBI36
NG_032964.1:g.347445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4287T>C
ENST00000700062.1:c.4426+13518T>C
ENST00000700063.1:c.812T>C
ENST00000700064.1:c.2157T>C
ENST00000281513.10:c.6301T>C MANE Select	ENSP00000281513.5:p.Trp2101Arg
ENST00000281513.9:c.6301T>C	ENSP00000281513.5:p.Trp2101Arg
ENST00000417461.5:c.512+13518T>C	ENSP00000392421.1:n.512+13518T>C
ENST00000442506.5:c.3444T>C
NM_015909.3:c.6301T>C	NP_056993.2:p.Trp2101Arg
NR_052013.2:n.6280+13518T>C
XM_011510357.1:c.6172T>C	XP_011508659.1:p.Trp2058Arg
XM_011510358.1:c.6301T>C	XP_011508660.1:p.Trp2101Arg
XM_011510359.1:c.5662T>C	XP_011508661.1:p.Trp1888Arg
XM_011510360.1:c.4102T>C	XP_011508662.1:p.Trp1368Arg
XM_011510361.1:c.4093T>C	XP_011508663.1:p.Trp1365Arg
XM_011510357.2:c.6172T>C	XP_011508659.1:p.Trp2058Arg
XM_011510358.2:c.6301T>C	XP_011508660.1:p.Trp2101Arg
XM_011510360.2:c.4102T>C	XP_011508662.1:p.Trp1368Arg
XM_011510361.2:c.4093T>C	XP_011508663.1:p.Trp1365Arg
XM_017004317.1:c.6301T>C	XP_016859806.1:p.Trp2101Arg
XM_024452961.1:c.5662T>C	XP_024308729.1:p.Trp1888Arg
NM_015909.4:c.6301T>C MANE Select	NP_056993.2:p.Trp2101Arg
NR_052013.3:n.6266+13518T>C