Canonical Allele Identifier: CA9595453
Gene: NR1H2 HGNC NCBI

Linked Data

dbSNP Id: rs2303044

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50381944C>T , CM000681.2:g.50381944C>T GRCh38
NC_000019.9:g.50885201C>T , CM000681.1:g.50885201C>T GRCh37
NC_000019.8:g.55577013C>T NCBI36
NG_033800.1:g.2622C>T , LRG_785:g.2622C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000253727.10:c.1028-22C>T MANE Select ENSP00000253727.4:n.1028-22C>T
ENST00000652203.1:c.1028-22C>T ENSP00000499121.1:n.1028-22C>T
ENST00000253727.9:c.1028-22C>T ENSP00000253727.4:n.1028-22C>T
ENST00000411902.6:c.737-22C>T ENSP00000396151.2:n.737-22C>T
ENST00000593532.5:c.*238-22C>T ENSP00000472271.1:n.*238-22C>T
ENST00000593926.5:c.1028-22C>T ENSP00000471194.1:n.1028-22C>T
ENST00000597085.1:n.542-22C>T
ENST00000598168.5:c.938-22C>T ENSP00000471294.1:n.938-22C>T
ENST00000599105.5:c.896-22C>T ENSP00000472526.1:n.896-22C>T
NM_001256647.1:c.740-22C>T NP_001243576.1:n.740-22C>T
NM_007121.5:c.1031-22C>T NP_009052.3:n.1031-22C>T
NM_001256647.2:c.737-22C>T NP_001243576.2:n.737-22C>T
NM_007121.6:c.1028-22C>T NP_009052.4:n.1028-22C>T
NM_007121.7:c.1028-22C>T MANE Select NP_009052.4:n.1028-22C>T
NM_001256647.3:c.737-22C>T NP_001243576.2:n.737-22C>T