Canonical Allele Identifier: CA123266251
Gene: NR2F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 515013
ClinVar RCV Id: RCV000616949 RCV000924182
dbSNP Id: rs906581747
gnomAD v2: 5-92921005-G-A
gnomAD v3: 5-93585299-G-A
gnomAD v4: 5-93585299-G-A
MyVariant Identifiers: chr5:g.92921005G>A (hg19) chr5:g.93585299G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.93585299G>A , CM000667.2:g.93585299G>A GRCh38
NC_000005.9:g.92921005G>A , CM000667.1:g.92921005G>A GRCh37
NC_000005.8:g.92946761G>A NCBI36
NG_034119.1:g.6963G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000615873.2:c.201G>A ENSP00000481517.1:p.Lys67=
ENST00000327111.8:c.276G>A MANE Select ENSP00000325819.3:p.Lys92=
ENST00000647447.1:c.123G>A ENSP00000495740.1:p.Lys41=
ENST00000327111.7:c.276G>A ENSP00000325819.3:p.Lys92=
ENST00000615873.1:c.201G>A ENSP00000481517.1:p.Lys67=
NM_005654.5:c.276G>A NP_005645.1:p.Lys92=
NM_005654.6:c.276G>A MANE Select NP_005645.1:p.Lys92=
Search 100 bp 5'
Search 100 bp 3'