Canonical Allele Identifier: CA393032212
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736233
ClinVar RCV Id: RCV003559867
dbSNP Id: rs1246315416
gnomAD v2: 15-72103946-A-G
gnomAD v3: 15-71811606-A-G
gnomAD v4: 15-71811606-A-G
MyVariant Identifiers: chr15:g.72103946A>G (hg19) chr15:g.71811606A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811606A>G , CM000677.2:g.71811606A>G GRCh38
NC_000015.9:g.72103946A>G , CM000677.1:g.72103946A>G GRCh37
NC_000015.8:g.69891000A>G NCBI36
NG_009113.2:g.6052A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.242A>G MANE Select ENSP00000482504.1:p.Tyr81Cys
ENST00000617575.4:c.242A>G ENSP00000482504.1:p.Tyr81Cys
ENST00000621098.1:c.242A>G ENSP00000479962.1:p.Tyr81Cys
ENST00000621736.4:c.-23A>G ENSP00000479254.1:n.-23A>G
NM_014249.3:c.242A>G NP_055064.1:p.Tyr81Cys
NM_016346.3:c.242A>G NP_057430.1:p.Tyr81Cys
XM_011521146.1:c.-23A>G XP_011519448.1:n.-23A>G
NM_014249.4:c.242A>G MANE Select NP_055064.1:p.Tyr81Cys
NM_016346.4:c.242A>G NP_057430.1:p.Tyr81Cys
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