Canonical Allele Identifier: CA345881970

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542335G>C (hg19) ; chr2:g.15402211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402211G>C , CM000664.2:g.15402211G>C	GRCh38
NC_000002.11:g.15542335G>C , CM000664.1:g.15542335G>C	GRCh37
NC_000002.10:g.15459786G>C	NCBI36
NG_032964.1:g.164138C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1125C>G
ENST00000700062.1:c.1125C>G
ENST00000700065.1:n.3041C>G
ENST00000281513.10:c.3028C>G MANE Select	ENSP00000281513.5:p.Leu1010Val
ENST00000281513.9:c.3028C>G	ENSP00000281513.5:p.Leu1010Val
ENST00000429842.1:c.320C>G
ENST00000441755.5:c.169C>G	ENSP00000396501.1:p.Leu57Val
ENST00000442506.5:c.171C>G
NM_015909.3:c.3028C>G	NP_056993.2:p.Leu1010Val
NR_052013.2:n.3072C>G
XM_011510357.1:c.2899C>G	XP_011508659.1:p.Leu967Val
XM_011510358.1:c.3028C>G	XP_011508660.1:p.Leu1010Val
XM_011510359.1:c.2389C>G	XP_011508661.1:p.Leu797Val
XM_011510360.1:c.829C>G	XP_011508662.1:p.Leu277Val
XM_011510361.1:c.820C>G	XP_011508663.1:p.Leu274Val
XM_011510357.2:c.2899C>G	XP_011508659.1:p.Leu967Val
XM_011510358.2:c.3028C>G	XP_011508660.1:p.Leu1010Val
XM_011510360.2:c.829C>G	XP_011508662.1:p.Leu277Val
XM_011510361.2:c.820C>G	XP_011508663.1:p.Leu274Val
XM_017004317.1:c.3028C>G	XP_016859806.1:p.Leu1010Val
XM_024452961.1:c.2389C>G	XP_024308729.1:p.Leu797Val
NM_015909.4:c.3028C>G MANE Select	NP_056993.2:p.Leu1010Val
NR_052013.3:n.3058C>G