Canonical Allele Identifier: CA354055787

Gene: NR1I2

Linked Data

• MyVariant Identifiers: chr3:g.119526197G>T (hg19) ; chr3:g.119807350G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807350G>T , CM000665.2:g.119807350G>T	GRCh38
NC_000003.11:g.119526197G>T , CM000665.1:g.119526197G>T	GRCh37
NC_000003.10:g.121008887G>T	NCBI36
NG_011856.1:g.31867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.100G>T MANE Select	ENSP00000377319.3:p.Glu34Ter
ENST00000466380.6:c.100G>T	ENSP00000420297.2:p.Glu34Ter
ENST00000648112.1:c.*123G>T	ENSP00000497876.1:n.*123G>T
ENST00000337940.4:c.217G>T	ENSP00000336528.4:p.Glu73Ter
ENST00000393716.6:c.100G>T	ENSP00000377319.2:p.Glu34Ter
ENST00000466380.5:c.100G>T	ENSP00000420297.1:p.Glu34Ter
ENST00000474090.1:n.388G>T
NM_003889.3:c.100G>T	NP_003880.3:p.Glu34Ter
NM_022002.2:c.217G>T	NP_071285.1:p.Glu73Ter
NM_033013.2:c.100G>T	NP_148934.1:p.Glu34Ter
NM_003889.4:c.100G>T MANE Select	NP_003880.3:p.Glu34Ter
NM_022002.3:c.217G>T	NP_071285.1:p.Glu73Ter
NM_033013.3:c.100G>T	NP_148934.1:p.Glu34Ter