Canonical Allele Identifier: CA345884725

Gene: NBAS

Linked Data

• dbSNP Id: rs1316054493
• gnomAD v2: 2-15359016-G-T
• gnomAD v4: 2-15218892-G-T
• MyVariant Identifiers: chr2:g.15359016G>T (hg19) ; chr2:g.15218892G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218892G>T , CM000664.2:g.15218892G>T	GRCh38
NC_000002.11:g.15359016G>T , CM000664.1:g.15359016G>T	GRCh37
NC_000002.10:g.15276467G>T	NCBI36
NG_032964.1:g.347457C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4299C>A
ENST00000700062.1:c.4426+13530C>A
ENST00000700063.1:c.824C>A
ENST00000700064.1:c.2169C>A
ENST00000281513.10:c.6313C>A MANE Select	ENSP00000281513.5:p.Pro2105Thr
ENST00000281513.9:c.6313C>A	ENSP00000281513.5:p.Pro2105Thr
ENST00000417461.5:c.512+13530C>A	ENSP00000392421.1:n.512+13530C>A
ENST00000442506.5:c.3456C>A
NM_015909.3:c.6313C>A	NP_056993.2:p.Pro2105Thr
NR_052013.2:n.6280+13530C>A
XM_011510357.1:c.6184C>A	XP_011508659.1:p.Pro2062Thr
XM_011510358.1:c.6313C>A	XP_011508660.1:p.Pro2105Thr
XM_011510359.1:c.5674C>A	XP_011508661.1:p.Pro1892Thr
XM_011510360.1:c.4114C>A	XP_011508662.1:p.Pro1372Thr
XM_011510361.1:c.4105C>A	XP_011508663.1:p.Pro1369Thr
XM_011510357.2:c.6184C>A	XP_011508659.1:p.Pro2062Thr
XM_011510358.2:c.6313C>A	XP_011508660.1:p.Pro2105Thr
XM_011510360.2:c.4114C>A	XP_011508662.1:p.Pro1372Thr
XM_011510361.2:c.4105C>A	XP_011508663.1:p.Pro1369Thr
XM_017004317.1:c.6313C>A	XP_016859806.1:p.Pro2105Thr
XM_024452961.1:c.5674C>A	XP_024308729.1:p.Pro1892Thr
NM_015909.4:c.6313C>A MANE Select	NP_056993.2:p.Pro2105Thr
NR_052013.3:n.6266+13530C>A