Canonical Allele Identifier: CA360525881

Gene: NR2F1

Linked Data

• ClinVar Variation Id: 1806195
• ClinVar RCV Id: RCV002470479
• MyVariant Identifiers: chr5:g.92920994T>G (hg19) ; chr5:g.93585288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.93585288T>G , CM000667.2:g.93585288T>G	GRCh38
NC_000005.9:g.92920994T>G , CM000667.1:g.92920994T>G	GRCh37
NC_000005.8:g.92946750T>G	NCBI36
NG_034119.1:g.6952T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000615873.2:c.190T>G	ENSP00000481517.1:p.Cys64Gly
ENST00000327111.8:c.265T>G MANE Select	ENSP00000325819.3:p.Cys89Gly
ENST00000647447.1:c.112T>G	ENSP00000495740.1:p.Cys38Gly
ENST00000327111.7:c.265T>G	ENSP00000325819.3:p.Cys89Gly
ENST00000615873.1:c.190T>G	ENSP00000481517.1:p.Cys64Gly
NM_005654.5:c.265T>G	NP_005645.1:p.Cys89Gly
NM_005654.6:c.265T>G MANE Select	NP_005645.1:p.Cys89Gly