Canonical Allele Identifier: CA2340868646
Community Standard Title: NM_007121.7(NR1H2):c.-19-103T=
Gene: NR1H2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50377484T= , CM000681.2:g.50377484T= GRCh38
NC_000019.9:g.50880741T= , CM000681.1:g.50880741T= GRCh37
NC_000019.8:g.55572553T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_007121.7:c.-19-103T= MANE Select NP_009052.4:n.-19-103T=
ENST00000253727.10:c.-19-103T= MANE Select ENSP00000253727.4:n.-19-103T=
NM_001256647.1:c.-19-103T= NP_001243576.1:n.-19-103T=
NM_001256647.2:c.-19-103T= NP_001243576.2:n.-19-103T=
NM_001256647.3:c.-19-103T= NP_001243576.2:n.-19-103T=
NM_007121.5:c.-19-103T= NP_009052.3:n.-19-103T=
NM_007121.6:c.-19-103T= NP_009052.4:n.-19-103T=
ENST00000253727.9:c.-19-103T= ENSP00000253727.4:n.-19-103T=
ENST00000411902.6:c.-19-103T= ENSP00000396151.2:n.-19-103T=
ENST00000593532.5:c.-19-103T= ENSP00000472271.1:n.-19-103T=
ENST00000593926.5:c.-19-103T= ENSP00000471194.1:n.-19-103T=
ENST00000595730.5:n.229-103T=
ENST00000597130.5:c.-53-69T= ENSP00000472138.1:n.-53-69T=
ENST00000597157.1:c.-122T= ENSP00000469778.1:n.-122T=
ENST00000597790.5:c.-19-103T= ENSP00000470518.1:n.-19-103T=
ENST00000598168.5:c.-19-103T= ENSP00000471294.1:n.-19-103T=
ENST00000599105.5:c.-19-103T= ENSP00000472526.1:n.-19-103T=
ENST00000600355.5:c.-19-103T= ENSP00000473099.1:n.-19-103T=
ENST00000652203.1:c.-19-103T= ENSP00000499121.1:n.-19-103T=