Canonical Allele Identifier: CA393931552
Gene: NR2F2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2645730
ClinVar RCV Id: RCV003395053

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.96334588G>A , CM000677.2:g.96334588G>A GRCh38
NC_000015.9:g.96877817G>A , CM000677.1:g.96877817G>A GRCh37
NC_000015.8:g.94678821G>A NCBI36
NG_016753.1:g.13661G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394166.8:c.955G>A MANE Select ENSP00000377721.3:p.Val319Ile
ENST00000394166.7:c.955G>A ENSP00000377721.3:p.Val319Ile
ENST00000394171.6:c.496G>A ENSP00000377726.2:p.Val166Ile
ENST00000421109.6:c.556G>A ENSP00000401674.2:p.Val186Ile
ENST00000453270.2:c.496G>A ENSP00000389853.2:p.Val166Ile
NM_001145155.1:c.556G>A NP_001138627.1:p.Val186Ile
NM_001145156.1:c.496G>A NP_001138628.1:p.Val166Ile
NM_001145157.1:c.496G>A NP_001138629.1:p.Val166Ile
NM_021005.3:c.955G>A NP_066285.1:p.Val319Ile
NM_021005.4:c.955G>A MANE Select NP_066285.1:p.Val319Ile
NM_001145155.2:c.556G>A NP_001138627.1:p.Val186Ile
NM_001145157.2:c.496G>A NP_001138629.1:p.Val166Ile