Canonical Allele Identifier: CA354055960

Gene: NR1I2

Linked Data

• dbSNP Id: rs2055177304
• gnomAD v4: 3-119807402-A-G
• MyVariant Identifiers: chr3:g.119526249A>G (hg19) ; chr3:g.119807402A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807402A>G , CM000665.2:g.119807402A>G	GRCh38
NC_000003.11:g.119526249A>G , CM000665.1:g.119526249A>G	GRCh37
NC_000003.10:g.121008939A>G	NCBI36
NG_011856.1:g.31919A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.152A>G MANE Select	ENSP00000377319.3:p.Tyr51Cys
ENST00000466380.6:c.152A>G	ENSP00000420297.2:p.Tyr51Cys
ENST00000648112.1:c.*175A>G	ENSP00000497876.1:n.*175A>G
ENST00000337940.4:c.269A>G	ENSP00000336528.4:p.Tyr90Cys
ENST00000393716.6:c.152A>G	ENSP00000377319.2:p.Tyr51Cys
ENST00000466380.5:c.152A>G	ENSP00000420297.1:p.Tyr51Cys
ENST00000474090.1:n.440A>G
NM_003889.3:c.152A>G	NP_003880.3:p.Tyr51Cys
NM_022002.2:c.269A>G	NP_071285.1:p.Tyr90Cys
NM_033013.2:c.152A>G	NP_148934.1:p.Tyr51Cys
NM_003889.4:c.152A>G MANE Select	NP_003880.3:p.Tyr51Cys
NM_022002.3:c.269A>G	NP_071285.1:p.Tyr90Cys
NM_033013.3:c.152A>G	NP_148934.1:p.Tyr51Cys