Canonical Allele Identifier: CA354056000

Gene: NR1I2

Linked Data

• MyVariant Identifiers: chr3:g.119526259T>G (hg19) ; chr3:g.119807412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807412T>G , CM000665.2:g.119807412T>G	GRCh38
NC_000003.11:g.119526259T>G , CM000665.1:g.119526259T>G	GRCh37
NC_000003.10:g.121008949T>G	NCBI36
NG_011856.1:g.31929T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.162T>G MANE Select	ENSP00000377319.3:p.Asn54Lys
ENST00000466380.6:c.162T>G	ENSP00000420297.2:p.Asn54Lys
ENST00000648112.1:c.*185T>G	ENSP00000497876.1:n.*185T>G
ENST00000337940.4:c.279T>G	ENSP00000336528.4:p.Asn93Lys
ENST00000393716.6:c.162T>G	ENSP00000377319.2:p.Asn54Lys
ENST00000466380.5:c.162T>G	ENSP00000420297.1:p.Asn54Lys
ENST00000474090.1:n.450T>G
NM_003889.3:c.162T>G	NP_003880.3:p.Asn54Lys
NM_022002.2:c.279T>G	NP_071285.1:p.Asn93Lys
NM_033013.2:c.162T>G	NP_148934.1:p.Asn54Lys
NM_003889.4:c.162T>G MANE Select	NP_003880.3:p.Asn54Lys
NM_022002.3:c.279T>G	NP_071285.1:p.Asn93Lys
NM_033013.3:c.162T>G	NP_148934.1:p.Asn54Lys