Canonical Allele Identifier: CA345883709

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218777-C-G
• MyVariant Identifiers: chr2:g.15358901C>G (hg19) ; chr2:g.15218777C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218777C>G , CM000664.2:g.15218777C>G	GRCh38
NC_000002.11:g.15358901C>G , CM000664.1:g.15358901C>G	GRCh37
NC_000002.10:g.15276352C>G	NCBI36
NG_032964.1:g.347572G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4414G>C
ENST00000700062.1:c.4426+13645G>C
ENST00000700063.1:c.939G>C
ENST00000700064.1:c.2284G>C
ENST00000281513.10:c.6428G>C MANE Select	ENSP00000281513.5:p.Arg2143Thr
ENST00000281513.9:c.6428G>C	ENSP00000281513.5:p.Arg2143Thr
ENST00000417461.5:c.512+13645G>C	ENSP00000392421.1:n.512+13645G>C
ENST00000442506.5:c.3571G>C
NM_015909.3:c.6428G>C	NP_056993.2:p.Arg2143Thr
NR_052013.2:n.6280+13645G>C
XM_011510357.1:c.6299G>C	XP_011508659.1:p.Arg2100Thr
XM_011510358.1:c.6428G>C	XP_011508660.1:p.Arg2143Thr
XM_011510359.1:c.5789G>C	XP_011508661.1:p.Arg1930Thr
XM_011510360.1:c.4229G>C	XP_011508662.1:p.Arg1410Thr
XM_011510361.1:c.4220G>C	XP_011508663.1:p.Arg1407Thr
XM_011510357.2:c.6299G>C	XP_011508659.1:p.Arg2100Thr
XM_011510358.2:c.6428G>C	XP_011508660.1:p.Arg2143Thr
XM_011510360.2:c.4229G>C	XP_011508662.1:p.Arg1410Thr
XM_011510361.2:c.4220G>C	XP_011508663.1:p.Arg1407Thr
XM_017004317.1:c.6428G>C	XP_016859806.1:p.Arg2143Thr
XM_024452961.1:c.5789G>C	XP_024308729.1:p.Arg1930Thr
NM_015909.4:c.6428G>C MANE Select	NP_056993.2:p.Arg2143Thr
NR_052013.3:n.6266+13645G>C