Canonical Allele Identifier: CA2142596593
Gene: ESR2 HGNC NCBI

Linked Data

dbSNP Id: rs2076909524

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64293814_64293816del , CM000676.2:g.64293814_64293816del GRCh38
NC_000014.8:g.64760532_64760534del , CM000676.1:g.64760532_64760534del GRCh37
NC_000014.7:g.63830285_63830287del NCBI36
NG_011535.1:g.49735_49737del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341099.6:c.-91+217_-91+219del MANE Select ENSP00000343925.4:n.-91+217_-91+219del
ENST00000341099.5:c.-91+217_-91+219del ENSP00000343925.4:n.-91+217_-91+219del
ENST00000353772.7:c.-91+217_-91+219del ENSP00000335551.4:n.-91+217_-91+219del
ENST00000358599.9:c.-90-10741_-90-10739del ENSP00000351412.5:n.-90-10741_-90-10739del
ENST00000554572.5:c.-91+3717_-91+3719del ENSP00000450699.1:n.-91+3717_-91+3719del
ENST00000556275.5:c.-91+217_-91+219del ENSP00000452485.2:n.-91+217_-91+219del
NM_001040275.1:c.-91+217_-91+219del NP_001035365.1:n.-91+217_-91+219del
NM_001291712.1:c.-91+3717_-91+3719del NP_001278641.1:n.-91+3717_-91+3719del
NM_001291723.1:c.-90-10741_-90-10739del NP_001278652.1:n.-90-10741_-90-10739del
NM_001437.2:c.-91+217_-91+219del NP_001428.1:n.-91+217_-91+219del
NR_073496.1:n.654-10741_654-10739del
XM_011536545.1:c.-91+217_-91+219del XP_011534847.1:n.-91+217_-91+219del
XM_011536546.1:c.-91+7552_-91+7554del XP_011534848.1:n.-91+7552_-91+7554del
XM_017021079.1:c.-90-10741_-90-10739del XP_016876568.1:n.-90-10741_-90-10739del
XM_017021080.1:c.-90-10741_-90-10739del XP_016876569.1:n.-90-10741_-90-10739del
XM_017021081.1:c.-90-10741_-90-10739del XP_016876570.1:n.-90-10741_-90-10739del
XM_017021082.1:c.-90-10741_-90-10739del XP_016876571.1:n.-90-10741_-90-10739del
XM_017021083.1:c.-90-10741_-90-10739del XP_016876572.1:n.-90-10741_-90-10739del
XM_017021084.1:c.-90-10741_-90-10739del XP_016876573.1:n.-90-10741_-90-10739del
XR_001750187.1:n.485+217_485+219del
NM_001291712.2:c.-91+3717_-91+3719del NP_001278641.1:n.-91+3717_-91+3719del
NR_073496.2:n.717-10741_717-10739del
NM_001437.3:c.-91+217_-91+219del MANE Select NP_001428.1:n.-91+217_-91+219del