Canonical Allele Identifier: CA2667141731

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807540-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807540A>T , CM000665.2:g.119807540A>T	GRCh38
NC_000003.11:g.119526387A>T , CM000665.1:g.119526387A>T	GRCh37
NC_000003.10:g.121009077A>T	NCBI36
NG_011856.1:g.32057A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+93A>T MANE Select	ENSP00000377319.3:n.197+93A>T
ENST00000466380.6:c.197+93A>T	ENSP00000420297.2:n.197+93A>T
ENST00000648112.1:c.*313A>T	ENSP00000497876.1:n.*313A>T
ENST00000337940.4:c.314+93A>T	ENSP00000336528.4:n.314+93A>T
ENST00000393716.6:c.197+93A>T	ENSP00000377319.2:n.197+93A>T
ENST00000466380.5:c.197+93A>T	ENSP00000420297.1:n.197+93A>T
ENST00000474090.1:n.485+93A>T
NM_003889.3:c.197+93A>T	NP_003880.3:n.197+93A>T
NM_022002.2:c.314+93A>T	NP_071285.1:n.314+93A>T
NM_033013.2:c.197+93A>T	NP_148934.1:n.197+93A>T
NM_003889.4:c.197+93A>T MANE Select	NP_003880.3:n.197+93A>T
NM_022002.3:c.314+93A>T	NP_071285.1:n.314+93A>T
NM_033013.3:c.197+93A>T	NP_148934.1:n.197+93A>T