Canonical Allele Identifier: CA1396728372

Gene: NR1I2

Linked Data

• dbSNP Id: rs2055348882
• gnomAD v4: 3-119817645-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119817645A>T , CM000665.2:g.119817645A>T	GRCh38
NC_000003.11:g.119536492A>T , CM000665.1:g.119536492A>T	GRCh37
NC_000003.10:g.121019182A>T	NCBI36
NG_011856.1:g.42162A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.*433A>T MANE Select	ENSP00000377319.3:n.*433A>T
ENST00000466380.6:c.*433A>T	ENSP00000420297.2:n.*433A>T
ENST00000337940.4:c.*433A>T	ENSP00000336528.4:n.*433A>T
ENST00000393716.6:c.*433A>T	ENSP00000377319.2:n.*433A>T
ENST00000466380.5:c.*433A>T	ENSP00000420297.1:n.*433A>T
ENST00000493757.1:n.1870A>T
NM_003889.3:c.*433A>T	NP_003880.3:n.*433A>T
NM_022002.2:c.*433A>T	NP_071285.1:n.*433A>T
NM_033013.2:c.*433A>T	NP_148934.1:n.*433A>T
NM_003889.4:c.*433A>T MANE Select	NP_003880.3:n.*433A>T
NM_022002.3:c.*433A>T	NP_071285.1:n.*433A>T
NM_033013.3:c.*433A>T	NP_148934.1:n.*433A>T