Canonical Allele Identifier: CA345890121

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564552A>T (hg19) ; chr2:g.15424428A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424428A>T , CM000664.2:g.15424428A>T	GRCh38
NC_000002.11:g.15564552A>T , CM000664.1:g.15564552A>T	GRCh37
NC_000002.10:g.15482003A>T	NCBI36
NG_032964.1:g.141921T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.561T>A
ENST00000700062.1:c.561T>A
ENST00000700065.1:n.2477T>A
ENST00000700066.1:c.1981T>A	ENSP00000514780.1:p.Leu661Met
ENST00000281513.10:c.2464T>A MANE Select	ENSP00000281513.5:p.Leu822Met
ENST00000281513.9:c.2464T>A	ENSP00000281513.5:p.Leu822Met
NM_015909.3:c.2464T>A	NP_056993.2:p.Leu822Met
NR_052013.2:n.2508T>A
XM_011510357.1:c.2335T>A	XP_011508659.1:p.Leu779Met
XM_011510358.1:c.2464T>A	XP_011508660.1:p.Leu822Met
XM_011510359.1:c.1825T>A	XP_011508661.1:p.Leu609Met
XM_011510360.1:c.265T>A	XP_011508662.1:p.Leu89Met
XM_011510361.1:c.256T>A	XP_011508663.1:p.Leu86Met
XM_011510357.2:c.2335T>A	XP_011508659.1:p.Leu779Met
XM_011510358.2:c.2464T>A	XP_011508660.1:p.Leu822Met
XM_011510360.2:c.265T>A	XP_011508662.1:p.Leu89Met
XM_011510361.2:c.256T>A	XP_011508663.1:p.Leu86Met
XM_017004317.1:c.2464T>A	XP_016859806.1:p.Leu822Met
XM_024452961.1:c.1825T>A	XP_024308729.1:p.Leu609Met
NM_015909.4:c.2464T>A MANE Select	NP_056993.2:p.Leu822Met
NR_052013.3:n.2494T>A