Canonical Allele Identifier: CA345884795

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15359027C>A (hg19) ; chr2:g.15218903C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218903C>A , CM000664.2:g.15218903C>A	GRCh38
NC_000002.11:g.15359027C>A , CM000664.1:g.15359027C>A	GRCh37
NC_000002.10:g.15276478C>A	NCBI36
NG_032964.1:g.347446G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4288G>T
ENST00000700062.1:c.4426+13519G>T
ENST00000700063.1:c.813G>T
ENST00000700064.1:c.2158G>T
ENST00000281513.10:c.6302G>T MANE Select	ENSP00000281513.5:p.Trp2101Leu
ENST00000281513.9:c.6302G>T	ENSP00000281513.5:p.Trp2101Leu
ENST00000417461.5:c.512+13519G>T	ENSP00000392421.1:n.512+13519G>T
ENST00000442506.5:c.3445G>T
NM_015909.3:c.6302G>T	NP_056993.2:p.Trp2101Leu
NR_052013.2:n.6280+13519G>T
XM_011510357.1:c.6173G>T	XP_011508659.1:p.Trp2058Leu
XM_011510358.1:c.6302G>T	XP_011508660.1:p.Trp2101Leu
XM_011510359.1:c.5663G>T	XP_011508661.1:p.Trp1888Leu
XM_011510360.1:c.4103G>T	XP_011508662.1:p.Trp1368Leu
XM_011510361.1:c.4094G>T	XP_011508663.1:p.Trp1365Leu
XM_011510357.2:c.6173G>T	XP_011508659.1:p.Trp2058Leu
XM_011510358.2:c.6302G>T	XP_011508660.1:p.Trp2101Leu
XM_011510360.2:c.4103G>T	XP_011508662.1:p.Trp1368Leu
XM_011510361.2:c.4094G>T	XP_011508663.1:p.Trp1365Leu
XM_017004317.1:c.6302G>T	XP_016859806.1:p.Trp2101Leu
XM_024452961.1:c.5663G>T	XP_024308729.1:p.Trp1888Leu
NM_015909.4:c.6302G>T MANE Select	NP_056993.2:p.Trp2101Leu
NR_052013.3:n.6266+13519G>T