Canonical Allele Identifier: CA393931518

Gene: NR2F2

Linked Data

• ClinVar Variation Id: 522168
• ClinVar RCV Id: RCV000624302
• dbSNP Id: rs1555447237
• MyVariant Identifiers: chr15:g.96877802T>C (hg19) ; chr15:g.96334573T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.96334573T>C , CM000677.2:g.96334573T>C	GRCh38
NC_000015.9:g.96877802T>C , CM000677.1:g.96877802T>C	GRCh37
NC_000015.8:g.94678806T>C	NCBI36
NG_016753.1:g.13646T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394166.8:c.940T>C MANE Select	ENSP00000377721.3:p.Cys314Arg
ENST00000394166.7:c.940T>C	ENSP00000377721.3:p.Cys314Arg
ENST00000394171.6:c.481T>C	ENSP00000377726.2:p.Cys161Arg
ENST00000421109.6:c.541T>C	ENSP00000401674.2:p.Cys181Arg
ENST00000453270.2:c.481T>C	ENSP00000389853.2:p.Cys161Arg
NM_001145155.1:c.541T>C	NP_001138627.1:p.Cys181Arg
NM_001145156.1:c.481T>C	NP_001138628.1:p.Cys161Arg
NM_001145157.1:c.481T>C	NP_001138629.1:p.Cys161Arg
NM_021005.3:c.940T>C	NP_066285.1:p.Cys314Arg
NM_021005.4:c.940T>C MANE Select	NP_066285.1:p.Cys314Arg
NM_001145155.2:c.541T>C	NP_001138627.1:p.Cys181Arg
NM_001145157.2:c.481T>C	NP_001138629.1:p.Cys161Arg