Canonical Allele Identifier: CA385419627
Gene: NAB2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000300131.8:c.1480G>T MANE Select ENSP00000300131.3:p.Gly494Trp
ENST00000300131.7:c.1480G>T ENSP00000300131.3:p.Gly494Trp
ENST00000342556.6:c.1288G>T ENSP00000341491.6:p.Gly430Trp
NM_005967.3:c.1480G>T NP_005958.1:p.Gly494Trp
XM_005268894.2:c.1288G>T XP_005268951.1:p.Gly430Trp
NM_001330305.1:c.1288G>T NP_001317234.1:p.Gly430Trp
NM_005967.4:c.1480G>T MANE Select NP_005958.1:p.Gly494Trp
NM_001330305.2:c.1288G>T NP_001317234.1:p.Gly430Trp