Canonical Allele Identifier: CA707702346

Gene: ESR2

Linked Data

• dbSNP Id: rs1283750769
• gnomAD v3: 14-64296892-CCA-C
• gnomAD v4: 14-64296892-CCA-C
• MyVariant Identifiers: chr14:g.64763611_64763612del (hg19) ; chr14:g.64296893_64296894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64296893_64296894del , CM000676.2:g.64296893_64296894del	GRCh38
NC_000014.8:g.64763611_64763612del , CM000676.1:g.64763611_64763612del	GRCh37
NC_000014.7:g.63833364_63833365del	NCBI36
NG_011535.1:g.46657_46658del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358599.9:c.-90-13819_-90-13818del	ENSP00000351412.5:n.-90-13819_-90-13818del
ENST00000554572.5:c.-91+639_-91+640del	ENSP00000450699.1:n.-91+639_-91+640del
NM_001291712.1:c.-91+639_-91+640del	NP_001278641.1:n.-91+639_-91+640del
NM_001291723.1:c.-90-13819_-90-13818del	NP_001278652.1:n.-90-13819_-90-13818del
NR_073496.1:n.654-13819_654-13818del
XM_011536546.1:c.-91+4474_-91+4475del	XP_011534848.1:n.-91+4474_-91+4475del
XM_017021079.1:c.-90-13819_-90-13818del	XP_016876568.1:n.-90-13819_-90-13818del
XM_017021080.1:c.-90-13819_-90-13818del	XP_016876569.1:n.-90-13819_-90-13818del
XM_017021081.1:c.-90-13819_-90-13818del	XP_016876570.1:n.-90-13819_-90-13818del
XM_017021082.1:c.-90-13819_-90-13818del	XP_016876571.1:n.-90-13819_-90-13818del
XM_017021083.1:c.-90-13819_-90-13818del	XP_016876572.1:n.-90-13819_-90-13818del
XM_017021084.1:c.-90-13819_-90-13818del	XP_016876573.1:n.-90-13819_-90-13818del
NM_001291712.2:c.-91+639_-91+640del	NP_001278641.1:n.-91+639_-91+640del
NR_073496.2:n.717-13819_717-13818del