Canonical Allele Identifier: CA1052779082

Gene: NR1I2

Linked Data

• dbSNP Id: rs2055179774
• gnomAD v3: 3-119807554-G-A
• gnomAD v4: 3-119807554-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807554G>A , CM000665.2:g.119807554G>A	GRCh38
NC_000003.11:g.119526401G>A , CM000665.1:g.119526401G>A	GRCh37
NC_000003.10:g.121009091G>A	NCBI36
NG_011856.1:g.32071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+107G>A MANE Select	ENSP00000377319.3:n.197+107G>A
ENST00000466380.6:c.197+107G>A	ENSP00000420297.2:n.197+107G>A
ENST00000648112.1:c.*327G>A	ENSP00000497876.1:n.*327G>A
ENST00000337940.4:c.314+107G>A	ENSP00000336528.4:n.314+107G>A
ENST00000393716.6:c.197+107G>A	ENSP00000377319.2:n.197+107G>A
ENST00000466380.5:c.197+107G>A	ENSP00000420297.1:n.197+107G>A
ENST00000474090.1:n.485+107G>A
NM_003889.3:c.197+107G>A	NP_003880.3:n.197+107G>A
NM_022002.2:c.314+107G>A	NP_071285.1:n.314+107G>A
NM_033013.2:c.197+107G>A	NP_148934.1:n.197+107G>A
NM_003889.4:c.197+107G>A MANE Select	NP_003880.3:n.197+107G>A
NM_022002.3:c.314+107G>A	NP_071285.1:n.314+107G>A
NM_033013.3:c.197+107G>A	NP_148934.1:n.197+107G>A