Canonical Allele Identifier: CA964005402

Gene: ESR2

Linked Data

• dbSNP Id: rs2076910080
• gnomAD v3: 14-64293831-TAAA-T
• gnomAD v4: 14-64293831-TAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64293832_64293834del , CM000676.2:g.64293832_64293834del	GRCh38
NC_000014.8:g.64760550_64760552del , CM000676.1:g.64760550_64760552del	GRCh37
NC_000014.7:g.63830303_63830305del	NCBI36
NG_011535.1:g.49717_49719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341099.6:c.-91+199_-91+201del MANE Select	ENSP00000343925.4:n.-91+199_-91+201del
ENST00000341099.5:c.-91+199_-91+201del	ENSP00000343925.4:n.-91+199_-91+201del
ENST00000353772.7:c.-91+199_-91+201del	ENSP00000335551.4:n.-91+199_-91+201del
ENST00000358599.9:c.-90-10759_-90-10757del	ENSP00000351412.5:n.-90-10759_-90-10757del
ENST00000554572.5:c.-91+3699_-91+3701del	ENSP00000450699.1:n.-91+3699_-91+3701del
ENST00000556275.5:c.-91+199_-91+201del	ENSP00000452485.2:n.-91+199_-91+201del
NM_001040275.1:c.-91+199_-91+201del	NP_001035365.1:n.-91+199_-91+201del
NM_001291712.1:c.-91+3699_-91+3701del	NP_001278641.1:n.-91+3699_-91+3701del
NM_001291723.1:c.-90-10759_-90-10757del	NP_001278652.1:n.-90-10759_-90-10757del
NM_001437.2:c.-91+199_-91+201del	NP_001428.1:n.-91+199_-91+201del
NR_073496.1:n.654-10759_654-10757del
XM_011536545.1:c.-91+199_-91+201del	XP_011534847.1:n.-91+199_-91+201del
XM_011536546.1:c.-91+7534_-91+7536del	XP_011534848.1:n.-91+7534_-91+7536del
XM_017021079.1:c.-90-10759_-90-10757del	XP_016876568.1:n.-90-10759_-90-10757del
XM_017021080.1:c.-90-10759_-90-10757del	XP_016876569.1:n.-90-10759_-90-10757del
XM_017021081.1:c.-90-10759_-90-10757del	XP_016876570.1:n.-90-10759_-90-10757del
XM_017021082.1:c.-90-10759_-90-10757del	XP_016876571.1:n.-90-10759_-90-10757del
XM_017021083.1:c.-90-10759_-90-10757del	XP_016876572.1:n.-90-10759_-90-10757del
XM_017021084.1:c.-90-10759_-90-10757del	XP_016876573.1:n.-90-10759_-90-10757del
XR_001750187.1:n.485+199_485+201del
NM_001291712.2:c.-91+3699_-91+3701del	NP_001278641.1:n.-91+3699_-91+3701del
NR_073496.2:n.717-10759_717-10757del
NM_001437.3:c.-91+199_-91+201del MANE Select	NP_001428.1:n.-91+199_-91+201del