Canonical Allele Identifier: CA2340871792
Community Standard Title: NM_007121.7(NR1H2):c.*322C=
Gene: NR1H2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50382924C= , CM000681.2:g.50382924C= GRCh38
NC_000019.9:g.50886181C= , CM000681.1:g.50886181C= GRCh37
NC_000019.8:g.55577993C= NCBI36
NG_033800.1:g.3602C= , LRG_785:g.3602C=

Transcript Alleles

HGVS Amino-acid Change
NM_007121.7:c.*322C= MANE Select NP_009052.4:n.*322C=
ENST00000253727.10:c.*322C= MANE Select ENSP00000253727.4:n.*322C=
NM_001256647.1:c.*322C= NP_001243576.1:n.*322C=
NM_001256647.2:c.*322C= NP_001243576.2:n.*322C=
NM_001256647.3:c.*322C= NP_001243576.2:n.*322C=
NM_007121.5:c.*322C= NP_009052.3:n.*322C=
NM_007121.6:c.*322C= NP_009052.4:n.*322C=
ENST00000253727.9:c.*322C= ENSP00000253727.4:n.*322C=
ENST00000593532.5:c.*915C= ENSP00000472271.1:n.*915C=
ENST00000593926.5:c.*322C= ENSP00000471194.1:n.*322C=
ENST00000598168.5:c.*322C= ENSP00000471294.1:n.*322C=
ENST00000599105.5:c.*322C= ENSP00000472526.1:n.*322C=
ENST00000652203.1:c.*322C= ENSP00000499121.1:n.*322C=