Canonical Allele Identifier: CA345882008

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542343T>G (hg19) ; chr2:g.15402219T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402219T>G , CM000664.2:g.15402219T>G	GRCh38
NC_000002.11:g.15542343T>G , CM000664.1:g.15542343T>G	GRCh37
NC_000002.10:g.15459794T>G	NCBI36
NG_032964.1:g.164130A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1117A>C
ENST00000700062.1:c.1117A>C
ENST00000700065.1:n.3033A>C
ENST00000281513.10:c.3020A>C MANE Select	ENSP00000281513.5:p.Gln1007Pro
ENST00000281513.9:c.3020A>C	ENSP00000281513.5:p.Gln1007Pro
ENST00000429842.1:c.312A>C
ENST00000441755.5:c.161A>C	ENSP00000396501.1:p.Gln54Pro
ENST00000442506.5:c.163A>C
NM_015909.3:c.3020A>C	NP_056993.2:p.Gln1007Pro
NR_052013.2:n.3064A>C
XM_011510357.1:c.2891A>C	XP_011508659.1:p.Gln964Pro
XM_011510358.1:c.3020A>C	XP_011508660.1:p.Gln1007Pro
XM_011510359.1:c.2381A>C	XP_011508661.1:p.Gln794Pro
XM_011510360.1:c.821A>C	XP_011508662.1:p.Gln274Pro
XM_011510361.1:c.812A>C	XP_011508663.1:p.Gln271Pro
XM_011510357.2:c.2891A>C	XP_011508659.1:p.Gln964Pro
XM_011510358.2:c.3020A>C	XP_011508660.1:p.Gln1007Pro
XM_011510360.2:c.821A>C	XP_011508662.1:p.Gln274Pro
XM_011510361.2:c.812A>C	XP_011508663.1:p.Gln271Pro
XM_017004317.1:c.3020A>C	XP_016859806.1:p.Gln1007Pro
XM_024452961.1:c.2381A>C	XP_024308729.1:p.Gln794Pro
NM_015909.4:c.3020A>C MANE Select	NP_056993.2:p.Gln1007Pro
NR_052013.3:n.3050A>C