Canonical Allele Identifier: CA424870501

Gene: NBAS

Linked Data

• gnomAD v4: 2-15424375-C-T
• MyVariant Identifiers: chr2:g.15564499C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424375C>T , CM000664.2:g.15424375C>T	GRCh38
NC_000002.11:g.15564499C>T , CM000664.1:g.15564499C>T	GRCh37
NC_000002.10:g.15481950C>T	NCBI36
NG_032964.1:g.141974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.614G>A
ENST00000700062.1:c.614G>A
ENST00000700065.1:n.2530G>A
ENST00000700066.1:c.2034G>A	ENSP00000514780.1:p.Val678=
ENST00000281513.10:c.2517G>A MANE Select	ENSP00000281513.5:p.Val839=
ENST00000281513.9:c.2517G>A	ENSP00000281513.5:p.Val839=
ENST00000441755.5:c.18G>A	ENSP00000396501.1:p.Val6=
ENST00000442506.5:c.20G>A
NM_015909.3:c.2517G>A	NP_056993.2:p.Val839=
NR_052013.2:n.2561G>A
XM_011510357.1:c.2388G>A	XP_011508659.1:p.Val796=
XM_011510358.1:c.2517G>A	XP_011508660.1:p.Val839=
XM_011510359.1:c.1878G>A	XP_011508661.1:p.Val626=
XM_011510360.1:c.318G>A	XP_011508662.1:p.Val106=
XM_011510361.1:c.309G>A	XP_011508663.1:p.Val103=
XM_011510357.2:c.2388G>A	XP_011508659.1:p.Val796=
XM_011510358.2:c.2517G>A	XP_011508660.1:p.Val839=
XM_011510360.2:c.318G>A	XP_011508662.1:p.Val106=
XM_011510361.2:c.309G>A	XP_011508663.1:p.Val103=
XM_017004317.1:c.2517G>A	XP_016859806.1:p.Val839=
XM_024452961.1:c.1878G>A	XP_024308729.1:p.Val626=
NM_015909.4:c.2517G>A MANE Select	NP_056993.2:p.Val839=
NR_052013.3:n.2547G>A