Canonical Allele Identifier: CA2740096786

Gene: NR2F2

Linked Data

• ClinVar Variation Id: 3062322
• ClinVar RCV Id: RCV003986044

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.96334317del , CM000677.2:g.96334317del	GRCh38
NC_000015.9:g.96877546del , CM000677.1:g.96877546del	GRCh37
NC_000015.8:g.94678550del	NCBI36
NG_016753.1:g.13390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394166.8:c.684del MANE Select	ENSP00000377721.3:p.Asn229ThrfsTer27
ENST00000394166.7:c.684del	ENSP00000377721.3:p.Asn229ThrfsTer27
ENST00000394171.6:c.225del	ENSP00000377726.2:p.Asn76ThrfsTer27
ENST00000421109.6:c.285del	ENSP00000401674.2:p.Asn96ThrfsTer27
ENST00000453270.2:c.225del	ENSP00000389853.2:p.Asn76ThrfsTer27
ENST00000559679.1:c.225del	ENSP00000457112.1:p.Asn76ThrfsTer?
NM_001145155.1:c.285del	NP_001138627.1:p.Asn96ThrfsTer27
NM_001145156.1:c.225del	NP_001138628.1:p.Asn76ThrfsTer27
NM_001145157.1:c.225del	NP_001138629.1:p.Asn76ThrfsTer27
NM_021005.3:c.684del	NP_066285.1:p.Asn229ThrfsTer27
NM_021005.4:c.684del MANE Select	NP_066285.1:p.Asn229ThrfsTer27
NM_001145155.2:c.285del	NP_001138627.1:p.Asn96ThrfsTer27
NM_001145157.2:c.225del	NP_001138629.1:p.Asn76ThrfsTer27