Canonical Allele Identifier: CA2577909414

Gene: NR1I2

Linked Data

• dbSNP Id: rs2107969271
• gnomAD v4: 3-119807517-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807517C>T , CM000665.2:g.119807517C>T	GRCh38
NC_000003.11:g.119526364C>T , CM000665.1:g.119526364C>T	GRCh37
NC_000003.10:g.121009054C>T	NCBI36
NG_011856.1:g.32034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+70C>T MANE Select	ENSP00000377319.3:n.197+70C>T
ENST00000466380.6:c.197+70C>T	ENSP00000420297.2:n.197+70C>T
ENST00000648112.1:c.*290C>T	ENSP00000497876.1:n.*290C>T
ENST00000337940.4:c.314+70C>T	ENSP00000336528.4:n.314+70C>T
ENST00000393716.6:c.197+70C>T	ENSP00000377319.2:n.197+70C>T
ENST00000466380.5:c.197+70C>T	ENSP00000420297.1:n.197+70C>T
ENST00000474090.1:n.485+70C>T
NM_003889.3:c.197+70C>T	NP_003880.3:n.197+70C>T
NM_022002.2:c.314+70C>T	NP_071285.1:n.314+70C>T
NM_033013.2:c.197+70C>T	NP_148934.1:n.197+70C>T
NM_003889.4:c.197+70C>T MANE Select	NP_003880.3:n.197+70C>T
NM_022002.3:c.314+70C>T	NP_071285.1:n.314+70C>T
NM_033013.3:c.197+70C>T	NP_148934.1:n.197+70C>T