Canonical Allele Identifier: CA345890318

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564582C>T (hg19) ; chr2:g.15424458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424458C>T , CM000664.2:g.15424458C>T	GRCh38
NC_000002.11:g.15564582C>T , CM000664.1:g.15564582C>T	GRCh37
NC_000002.10:g.15482033C>T	NCBI36
NG_032964.1:g.141891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.531G>A
ENST00000700062.1:c.531G>A
ENST00000700065.1:n.2447G>A
ENST00000700066.1:c.1951G>A	ENSP00000514780.1:p.Glu651Lys
ENST00000281513.10:c.2434G>A MANE Select	ENSP00000281513.5:p.Glu812Lys
ENST00000281513.9:c.2434G>A	ENSP00000281513.5:p.Glu812Lys
NM_015909.3:c.2434G>A	NP_056993.2:p.Glu812Lys
NR_052013.2:n.2478G>A
XM_011510357.1:c.2305G>A	XP_011508659.1:p.Glu769Lys
XM_011510358.1:c.2434G>A	XP_011508660.1:p.Glu812Lys
XM_011510359.1:c.1795G>A	XP_011508661.1:p.Glu599Lys
XM_011510360.1:c.235G>A	XP_011508662.1:p.Glu79Lys
XM_011510361.1:c.226G>A	XP_011508663.1:p.Glu76Lys
XM_011510357.2:c.2305G>A	XP_011508659.1:p.Glu769Lys
XM_011510358.2:c.2434G>A	XP_011508660.1:p.Glu812Lys
XM_011510360.2:c.235G>A	XP_011508662.1:p.Glu79Lys
XM_011510361.2:c.226G>A	XP_011508663.1:p.Glu76Lys
XM_017004317.1:c.2434G>A	XP_016859806.1:p.Glu812Lys
XM_024452961.1:c.1795G>A	XP_024308729.1:p.Glu599Lys
NM_015909.4:c.2434G>A MANE Select	NP_056993.2:p.Glu812Lys
NR_052013.3:n.2464G>A