Canonical Allele Identifier: CA345881912

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542320G>T (hg19) ; chr2:g.15402196G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402196G>T , CM000664.2:g.15402196G>T	GRCh38
NC_000002.11:g.15542320G>T , CM000664.1:g.15542320G>T	GRCh37
NC_000002.10:g.15459771G>T	NCBI36
NG_032964.1:g.164153C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1140C>A
ENST00000700062.1:c.1140C>A
ENST00000700065.1:n.3056C>A
ENST00000281513.10:c.3043C>A MANE Select	ENSP00000281513.5:p.Leu1015Ile
ENST00000281513.9:c.3043C>A	ENSP00000281513.5:p.Leu1015Ile
ENST00000429842.1:c.335C>A
ENST00000441755.5:c.184C>A	ENSP00000396501.1:p.Leu62Ile
ENST00000442506.5:c.186C>A
NM_015909.3:c.3043C>A	NP_056993.2:p.Leu1015Ile
NR_052013.2:n.3087C>A
XM_011510357.1:c.2914C>A	XP_011508659.1:p.Leu972Ile
XM_011510358.1:c.3043C>A	XP_011508660.1:p.Leu1015Ile
XM_011510359.1:c.2404C>A	XP_011508661.1:p.Leu802Ile
XM_011510360.1:c.844C>A	XP_011508662.1:p.Leu282Ile
XM_011510361.1:c.835C>A	XP_011508663.1:p.Leu279Ile
XM_011510357.2:c.2914C>A	XP_011508659.1:p.Leu972Ile
XM_011510358.2:c.3043C>A	XP_011508660.1:p.Leu1015Ile
XM_011510360.2:c.844C>A	XP_011508662.1:p.Leu282Ile
XM_011510361.2:c.835C>A	XP_011508663.1:p.Leu279Ile
XM_017004317.1:c.3043C>A	XP_016859806.1:p.Leu1015Ile
XM_024452961.1:c.2404C>A	XP_024308729.1:p.Leu802Ile
NM_015909.4:c.3043C>A MANE Select	NP_056993.2:p.Leu1015Ile
NR_052013.3:n.3073C>A