Canonical Allele Identifier: CA6641335

Gene: NAB2

Linked Data

• dbSNP Id: rs771078272
• ExAC: 12:57488406 G / A
• gnomAD v2: 12-57488406-G-A
• gnomAD v3: 12-57094623-G-A
• gnomAD v4: 12-57094623-G-A
• MyVariant Identifiers: chr12:g.57488406G>A (hg19) ; chr12:g.57094623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57094623G>A , CM000674.2:g.57094623G>A	GRCh38
NC_000012.11:g.57488406G>A , CM000674.1:g.57488406G>A	GRCh37
NC_000012.10:g.55774673G>A	NCBI36
NG_021272.1:g.21791C>T
NG_021272.2:g.42517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300131.8:c.1480G>A MANE Select	ENSP00000300131.3:p.Gly494Arg
ENST00000300131.7:c.1480G>A	ENSP00000300131.3:p.Gly494Arg
ENST00000342556.6:c.1288G>A	ENSP00000341491.6:p.Gly430Arg
NM_005967.3:c.1480G>A	NP_005958.1:p.Gly494Arg
XM_005268894.2:c.1288G>A	XP_005268951.1:p.Gly430Arg
NM_001330305.1:c.1288G>A	NP_001317234.1:p.Gly430Arg
NM_005967.4:c.1480G>A MANE Select	NP_005958.1:p.Gly494Arg
NM_001330305.2:c.1288G>A	NP_001317234.1:p.Gly430Arg