Canonical Allele Identifier: CA345881965

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542334A>G (hg19) ; chr2:g.15402210A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402210A>G , CM000664.2:g.15402210A>G	GRCh38
NC_000002.11:g.15542334A>G , CM000664.1:g.15542334A>G	GRCh37
NC_000002.10:g.15459785A>G	NCBI36
NG_032964.1:g.164139T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1126T>C
ENST00000700062.1:c.1126T>C
ENST00000700065.1:n.3042T>C
ENST00000281513.10:c.3029T>C MANE Select	ENSP00000281513.5:p.Leu1010Pro
ENST00000281513.9:c.3029T>C	ENSP00000281513.5:p.Leu1010Pro
ENST00000429842.1:c.321T>C
ENST00000441755.5:c.170T>C	ENSP00000396501.1:p.Leu57Pro
ENST00000442506.5:c.172T>C
NM_015909.3:c.3029T>C	NP_056993.2:p.Leu1010Pro
NR_052013.2:n.3073T>C
XM_011510357.1:c.2900T>C	XP_011508659.1:p.Leu967Pro
XM_011510358.1:c.3029T>C	XP_011508660.1:p.Leu1010Pro
XM_011510359.1:c.2390T>C	XP_011508661.1:p.Leu797Pro
XM_011510360.1:c.830T>C	XP_011508662.1:p.Leu277Pro
XM_011510361.1:c.821T>C	XP_011508663.1:p.Leu274Pro
XM_011510357.2:c.2900T>C	XP_011508659.1:p.Leu967Pro
XM_011510358.2:c.3029T>C	XP_011508660.1:p.Leu1010Pro
XM_011510360.2:c.830T>C	XP_011508662.1:p.Leu277Pro
XM_011510361.2:c.821T>C	XP_011508663.1:p.Leu274Pro
XM_017004317.1:c.3029T>C	XP_016859806.1:p.Leu1010Pro
XM_024452961.1:c.2390T>C	XP_024308729.1:p.Leu797Pro
NM_015909.4:c.3029T>C MANE Select	NP_056993.2:p.Leu1010Pro
NR_052013.3:n.3059T>C