Canonical Allele Identifier: CA360527972
Community Standard Title: NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
Gene: NR2F1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.93593754G>C , CM000667.2:g.93593754G>C GRCh38
NC_000005.9:g.92929460G>C , CM000667.1:g.92929460G>C GRCh37
NC_000005.8:g.92955216G>C NCBI36
NG_034119.1:g.15418G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005654.6:c.1184G>C MANE Select NP_005645.1:p.Gly395Ala
ENST00000327111.8:c.1184G>C MANE Select ENSP00000325819.3:p.Gly395Ala
NM_005654.5:c.1184G>C NP_005645.1:p.Gly395Ala
ENST00000327111.7:c.1184G>C ENSP00000325819.3:p.Gly395Ala
ENST00000502982.2:c.704G>C ENSP00000514864.1:p.Gly235Ala
ENST00000506162.1:n.407G>C
ENST00000512697.2:c.734G>C ENSP00000514863.1:p.Gly245Ala
ENST00000615873.1:c.1109G>C ENSP00000481517.1:p.Gly370Ala
ENST00000615873.2:c.1109G>C ENSP00000481517.1:p.Gly370Ala
ENST00000647447.1:c.1031G>C ENSP00000495740.1:p.Gly344Ala
ENST00000700211.1:c.704G>C ENSP00000514862.1:p.Gly235Ala
XM_017009797.1:c.734G>C XP_016865286.1:p.Gly245Ala