Canonical Allele Identifier: CA2287046

Gene: NR1D2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.23977320G>C , CM000665.2:g.23977320G>C	GRCh38
NC_000003.11:g.24018811G>C , CM000665.1:g.24018811G>C	GRCh37
NC_000003.10:g.23993815G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005126.5:c.1641G>C MANE Select	NP_005117.3:p.Glu547Asp
ENST00000312521.9:c.1641G>C MANE Select	ENSP00000310006.3:p.Glu547Asp
NM_001145425.1:c.1416G>C	NP_001138897.1:p.Glu472Asp
NM_001145425.2:c.1416G>C	NP_001138897.1:p.Glu472Asp
NM_005126.4:c.1641G>C	NP_005117.3:p.Glu547Asp
NR_110524.1:n.2067G>C
NR_110524.2:n.2041G>C
ENST00000312521.8:c.1641G>C	ENSP00000310006.3:p.Glu547Asp
ENST00000383773.8:c.*521G>C	ENSP00000373283.3:n.*521G>C
ENST00000492552.5:n.1758G>C
XM_006713451.2:c.*83G>C	XP_006713514.1:n.*83G>C
XM_006713451.3:c.*83G>C	XP_006713514.1:n.*83G>C