Canonical Allele Identifier: CA262511361

Gene: ESR2

Linked Data

• dbSNP Id: rs538808487
• gnomAD v2: 14-64760545-A-T
• gnomAD v3: 14-64293827-A-T
• gnomAD v4: 14-64293827-A-T
• MyVariant Identifiers: chr14:g.64760545A>T (hg19) ; chr14:g.64293827A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64293827A>T , CM000676.2:g.64293827A>T	GRCh38
NC_000014.8:g.64760545A>T , CM000676.1:g.64760545A>T	GRCh37
NC_000014.7:g.63830298A>T	NCBI36
NG_011535.1:g.49724T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341099.6:c.-91+206T>A MANE Select	ENSP00000343925.4:n.-91+206T>A
ENST00000341099.5:c.-91+206T>A	ENSP00000343925.4:n.-91+206T>A
ENST00000353772.7:c.-91+206T>A	ENSP00000335551.4:n.-91+206T>A
ENST00000358599.9:c.-90-10752T>A	ENSP00000351412.5:n.-90-10752T>A
ENST00000554572.5:c.-91+3706T>A	ENSP00000450699.1:n.-91+3706T>A
ENST00000556275.5:c.-91+206T>A	ENSP00000452485.2:n.-91+206T>A
NM_001040275.1:c.-91+206T>A	NP_001035365.1:n.-91+206T>A
NM_001291712.1:c.-91+3706T>A	NP_001278641.1:n.-91+3706T>A
NM_001291723.1:c.-90-10752T>A	NP_001278652.1:n.-90-10752T>A
NM_001437.2:c.-91+206T>A	NP_001428.1:n.-91+206T>A
NR_073496.1:n.654-10752T>A
XM_011536545.1:c.-91+206T>A	XP_011534847.1:n.-91+206T>A
XM_011536546.1:c.-91+7541T>A	XP_011534848.1:n.-91+7541T>A
XM_017021079.1:c.-90-10752T>A	XP_016876568.1:n.-90-10752T>A
XM_017021080.1:c.-90-10752T>A	XP_016876569.1:n.-90-10752T>A
XM_017021081.1:c.-90-10752T>A	XP_016876570.1:n.-90-10752T>A
XM_017021082.1:c.-90-10752T>A	XP_016876571.1:n.-90-10752T>A
XM_017021083.1:c.-90-10752T>A	XP_016876572.1:n.-90-10752T>A
XM_017021084.1:c.-90-10752T>A	XP_016876573.1:n.-90-10752T>A
XR_001750187.1:n.485+206T>A
NM_001291712.2:c.-91+3706T>A	NP_001278641.1:n.-91+3706T>A
NR_073496.2:n.717-10752T>A
NM_001437.3:c.-91+206T>A MANE Select	NP_001428.1:n.-91+206T>A