Canonical Allele Identifier: CA2801886399
Gene: ESR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64293838_64293842del , CM000676.2:g.64293838_64293842del GRCh38
NC_000014.8:g.64760556_64760560del , CM000676.1:g.64760556_64760560del GRCh37
NC_000014.7:g.63830309_63830313del NCBI36
NG_011535.1:g.49712_49716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341099.6:c.-91+194_-91+198del MANE Select ENSP00000343925.4:n.-91+194_-91+198del
ENST00000341099.5:c.-91+194_-91+198del ENSP00000343925.4:n.-91+194_-91+198del
ENST00000353772.7:c.-91+194_-91+198del ENSP00000335551.4:n.-91+194_-91+198del
ENST00000358599.9:c.-90-10764_-90-10760del ENSP00000351412.5:n.-90-10764_-90-10760del
ENST00000554572.5:c.-91+3694_-91+3698del ENSP00000450699.1:n.-91+3694_-91+3698del
ENST00000556275.5:c.-91+194_-91+198del ENSP00000452485.2:n.-91+194_-91+198del
NM_001040275.1:c.-91+194_-91+198del NP_001035365.1:n.-91+194_-91+198del
NM_001291712.1:c.-91+3694_-91+3698del NP_001278641.1:n.-91+3694_-91+3698del
NM_001291723.1:c.-90-10764_-90-10760del NP_001278652.1:n.-90-10764_-90-10760del
NM_001437.2:c.-91+194_-91+198del NP_001428.1:n.-91+194_-91+198del
NR_073496.1:n.654-10764_654-10760del
XM_011536545.1:c.-91+194_-91+198del XP_011534847.1:n.-91+194_-91+198del
XM_011536546.1:c.-91+7529_-91+7533del XP_011534848.1:n.-91+7529_-91+7533del
XM_017021079.1:c.-90-10764_-90-10760del XP_016876568.1:n.-90-10764_-90-10760del
XM_017021080.1:c.-90-10764_-90-10760del XP_016876569.1:n.-90-10764_-90-10760del
XM_017021081.1:c.-90-10764_-90-10760del XP_016876570.1:n.-90-10764_-90-10760del
XM_017021082.1:c.-90-10764_-90-10760del XP_016876571.1:n.-90-10764_-90-10760del
XM_017021083.1:c.-90-10764_-90-10760del XP_016876572.1:n.-90-10764_-90-10760del
XM_017021084.1:c.-90-10764_-90-10760del XP_016876573.1:n.-90-10764_-90-10760del
XR_001750187.1:n.485+194_485+198del
NM_001291712.2:c.-91+3694_-91+3698del NP_001278641.1:n.-91+3694_-91+3698del
NR_073496.2:n.717-10764_717-10760del
NM_001437.3:c.-91+194_-91+198del MANE Select NP_001428.1:n.-91+194_-91+198del