Canonical Allele Identifier: CA948055752

Gene: NAB2

Linked Data

• gnomAD v3: 12-57094324-A-AC
• gnomAD v4: 12-57094324-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57094329dup , CM000674.2:g.57094329dup	GRCh38
NC_000012.11:g.57488112dup , CM000674.1:g.57488112dup	GRCh37
NC_000012.10:g.55774379dup	NCBI36
NG_021272.1:g.22089dup
NG_021272.2:g.42815dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300131.8:c.1469-283dup MANE Select	ENSP00000300131.3:n.1469-283dup
ENST00000300131.7:c.1469-283dup	ENSP00000300131.3:n.1469-283dup
ENST00000342556.6:c.1277-283dup	ENSP00000341491.6:n.1277-283dup
NM_005967.3:c.1469-283dup	NP_005958.1:n.1469-283dup
XM_005268894.2:c.1277-283dup	XP_005268951.1:n.1277-283dup
NM_001330305.1:c.1277-283dup	NP_001317234.1:n.1277-283dup
NM_005967.4:c.1469-283dup MANE Select	NP_005958.1:n.1469-283dup
NM_001330305.2:c.1277-283dup	NP_001317234.1:n.1277-283dup