Canonical Allele Identifier: CA445569996

Gene: NR2F1

Linked Data

• ClinVar Variation Id: 1603006
• ClinVar RCV Id: RCV002141713
• dbSNP Id: rs2149941634
• MyVariant Identifiers: chr5:g.92921105A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.93585399A>C , CM000667.2:g.93585399A>C	GRCh38
NC_000005.9:g.92921105A>C , CM000667.1:g.92921105A>C	GRCh37
NC_000005.8:g.92946861A>C	NCBI36
NG_034119.1:g.7063A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000615873.2:c.301A>C	ENSP00000481517.1:p.Arg101=
ENST00000327111.8:c.376A>C MANE Select	ENSP00000325819.3:p.Arg126=
ENST00000647447.1:c.223A>C	ENSP00000495740.1:p.Arg75=
ENST00000327111.7:c.376A>C	ENSP00000325819.3:p.Arg126=
ENST00000615873.1:c.301A>C	ENSP00000481517.1:p.Arg101=
NM_005654.5:c.376A>C	NP_005645.1:p.Arg126=
NM_005654.6:c.376A>C MANE Select	NP_005645.1:p.Arg126=