Canonical Allele Identifier: CA345881908

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542319A>C (hg19) ; chr2:g.15402195A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402195A>C , CM000664.2:g.15402195A>C	GRCh38
NC_000002.11:g.15542319A>C , CM000664.1:g.15542319A>C	GRCh37
NC_000002.10:g.15459770A>C	NCBI36
NG_032964.1:g.164154T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1141T>G
ENST00000700062.1:c.1141T>G
ENST00000700065.1:n.3057T>G
ENST00000281513.10:c.3044T>G MANE Select	ENSP00000281513.5:p.Leu1015Arg
ENST00000281513.9:c.3044T>G	ENSP00000281513.5:p.Leu1015Arg
ENST00000429842.1:c.336T>G
ENST00000441755.5:c.185T>G	ENSP00000396501.1:p.Leu62Arg
ENST00000442506.5:c.187T>G
NM_015909.3:c.3044T>G	NP_056993.2:p.Leu1015Arg
NR_052013.2:n.3088T>G
XM_011510357.1:c.2915T>G	XP_011508659.1:p.Leu972Arg
XM_011510358.1:c.3044T>G	XP_011508660.1:p.Leu1015Arg
XM_011510359.1:c.2405T>G	XP_011508661.1:p.Leu802Arg
XM_011510360.1:c.845T>G	XP_011508662.1:p.Leu282Arg
XM_011510361.1:c.836T>G	XP_011508663.1:p.Leu279Arg
XM_011510357.2:c.2915T>G	XP_011508659.1:p.Leu972Arg
XM_011510358.2:c.3044T>G	XP_011508660.1:p.Leu1015Arg
XM_011510360.2:c.845T>G	XP_011508662.1:p.Leu282Arg
XM_011510361.2:c.836T>G	XP_011508663.1:p.Leu279Arg
XM_017004317.1:c.3044T>G	XP_016859806.1:p.Leu1015Arg
XM_024452961.1:c.2405T>G	XP_024308729.1:p.Leu802Arg
NM_015909.4:c.3044T>G MANE Select	NP_056993.2:p.Leu1015Arg
NR_052013.3:n.3074T>G