Canonical Allele Identifier: CA424866941

Gene: NBAS

Linked Data

• dbSNP Id: rs1666778865
• MyVariant Identifiers: chr2:g.15358972C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218848C>T , CM000664.2:g.15218848C>T	GRCh38
NC_000002.11:g.15358972C>T , CM000664.1:g.15358972C>T	GRCh37
NC_000002.10:g.15276423C>T	NCBI36
NG_032964.1:g.347501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4343G>A
ENST00000700062.1:c.4426+13574G>A
ENST00000700063.1:c.868G>A
ENST00000700064.1:c.2213G>A
ENST00000281513.10:c.6357G>A MANE Select	ENSP00000281513.5:p.Leu2119=
ENST00000281513.9:c.6357G>A	ENSP00000281513.5:p.Leu2119=
ENST00000417461.5:c.512+13574G>A	ENSP00000392421.1:n.512+13574G>A
ENST00000442506.5:c.3500G>A
NM_015909.3:c.6357G>A	NP_056993.2:p.Leu2119=
NR_052013.2:n.6280+13574G>A
XM_011510357.1:c.6228G>A	XP_011508659.1:p.Leu2076=
XM_011510358.1:c.6357G>A	XP_011508660.1:p.Leu2119=
XM_011510359.1:c.5718G>A	XP_011508661.1:p.Leu1906=
XM_011510360.1:c.4158G>A	XP_011508662.1:p.Leu1386=
XM_011510361.1:c.4149G>A	XP_011508663.1:p.Leu1383=
XM_011510357.2:c.6228G>A	XP_011508659.1:p.Leu2076=
XM_011510358.2:c.6357G>A	XP_011508660.1:p.Leu2119=
XM_011510360.2:c.4158G>A	XP_011508662.1:p.Leu1386=
XM_011510361.2:c.4149G>A	XP_011508663.1:p.Leu1383=
XM_017004317.1:c.6357G>A	XP_016859806.1:p.Leu2119=
XM_024452961.1:c.5718G>A	XP_024308729.1:p.Leu1906=
NM_015909.4:c.6357G>A MANE Select	NP_056993.2:p.Leu2119=
NR_052013.3:n.6266+13574G>A