Canonical Allele Identifier: CA385419606
Gene: NAB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57094615T>A , CM000674.2:g.57094615T>A GRCh38
NC_000012.11:g.57488398T>A , CM000674.1:g.57488398T>A GRCh37
NC_000012.10:g.55774665T>A NCBI36
NG_021272.1:g.21799A>T
NG_021272.2:g.42525A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300131.8:c.1472T>A MANE Select ENSP00000300131.3:p.Phe491Tyr
ENST00000300131.7:c.1472T>A ENSP00000300131.3:p.Phe491Tyr
ENST00000342556.6:c.1280T>A ENSP00000341491.6:p.Phe427Tyr
NM_005967.3:c.1472T>A NP_005958.1:p.Phe491Tyr
XM_005268894.2:c.1280T>A XP_005268951.1:p.Phe427Tyr
NM_001330305.1:c.1280T>A NP_001317234.1:p.Phe427Tyr
NM_005967.4:c.1472T>A MANE Select NP_005958.1:p.Phe491Tyr
NM_001330305.2:c.1280T>A NP_001317234.1:p.Phe427Tyr