Canonical Allele Identifier: CA354055566

Gene: NR1I2

Linked Data

• MyVariant Identifiers: chr3:g.119526138T>G (hg19) ; chr3:g.119807291T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807291T>G , CM000665.2:g.119807291T>G	GRCh38
NC_000003.11:g.119526138T>G , CM000665.1:g.119526138T>G	GRCh37
NC_000003.10:g.121008828T>G	NCBI36
NG_011856.1:g.31808T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.41T>G MANE Select	ENSP00000377319.3:p.Phe14Cys
ENST00000466380.6:c.41T>G	ENSP00000420297.2:p.Phe14Cys
ENST00000648112.1:c.*64T>G	ENSP00000497876.1:n.*64T>G
ENST00000337940.4:c.158T>G	ENSP00000336528.4:p.Phe53Cys
ENST00000393716.6:c.41T>G	ENSP00000377319.2:p.Phe14Cys
ENST00000466380.5:c.41T>G	ENSP00000420297.1:p.Phe14Cys
ENST00000474090.1:n.329T>G
NM_003889.3:c.41T>G	NP_003880.3:p.Phe14Cys
NM_022002.2:c.158T>G	NP_071285.1:p.Phe53Cys
NM_033013.2:c.41T>G	NP_148934.1:p.Phe14Cys
NM_003889.4:c.41T>G MANE Select	NP_003880.3:p.Phe14Cys
NM_022002.3:c.158T>G	NP_071285.1:p.Phe53Cys
NM_033013.3:c.41T>G	NP_148934.1:p.Phe14Cys