Canonical Allele Identifier: CA7640278
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2155106
ClinVar RCV Id: RCV003072165
dbSNP Id: rs766232933
ExAC: 15:72104155 CAGTGCCAGGCCTGCCGGCTGAAGA / C
gnomAD v2: 15-72104155-CAGTGCCAGGCCTGCCGGCTGAAGA-C
gnomAD v4: 15-71811815-CAGTGCCAGGCCTGCCGGCTGAAGA-C
MyVariant Identifiers: chr15:g.72104156_72104179del (hg19) chr15:g.71811816_71811839del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811822_71811845del , CM000677.2:g.71811822_71811845del GRCh38
NC_000015.9:g.72104162_72104185del , CM000677.1:g.72104162_72104185del GRCh37
NC_000015.8:g.69891216_69891239del NCBI36
NG_009113.2:g.6268_6291del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.302_325del MANE Select ENSP00000482504.1:p.Gln101_Cys108del
ENST00000617575.4:c.302_325del ENSP00000482504.1:p.Gln101_Cys108del
ENST00000621098.1:c.302_325del ENSP00000479962.1:p.Gln101_Cys108del
ENST00000621736.4:c.38_61del ENSP00000479254.1:p.Gln13_Cys20del
NM_014249.3:c.302_325del NP_055064.1:p.Gln101_Cys108del
NM_016346.3:c.302_325del NP_057430.1:p.Gln101_Cys108del
XM_011521146.1:c.38_61del XP_011519448.1:p.Gln13_Cys20del
NM_014249.4:c.302_325del MANE Select NP_055064.1:p.Gln101_Cys108del
NM_016346.4:c.302_325del NP_057430.1:p.Gln101_Cys108del
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