Canonical Allele Identifier: CA707702287

Gene: ESR2

Linked Data

• dbSNP Id: rs1351031150
• gnomAD v3: 14-64296768-A-C
• gnomAD v4: 14-64296768-A-C
• MyVariant Identifiers: chr14:g.64763486A>C (hg19) ; chr14:g.64296768A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64296768A>C , CM000676.2:g.64296768A>C	GRCh38
NC_000014.8:g.64763486A>C , CM000676.1:g.64763486A>C	GRCh37
NC_000014.7:g.63833239A>C	NCBI36
NG_011535.1:g.46783T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358599.9:c.-90-13693T>G	ENSP00000351412.5:n.-90-13693T>G
ENST00000554572.5:c.-91+765T>G	ENSP00000450699.1:n.-91+765T>G
NM_001291712.1:c.-91+765T>G	NP_001278641.1:n.-91+765T>G
NM_001291723.1:c.-90-13693T>G	NP_001278652.1:n.-90-13693T>G
NR_073496.1:n.654-13693T>G
XM_011536546.1:c.-91+4600T>G	XP_011534848.1:n.-91+4600T>G
XM_017021079.1:c.-90-13693T>G	XP_016876568.1:n.-90-13693T>G
XM_017021080.1:c.-90-13693T>G	XP_016876569.1:n.-90-13693T>G
XM_017021081.1:c.-90-13693T>G	XP_016876570.1:n.-90-13693T>G
XM_017021082.1:c.-90-13693T>G	XP_016876571.1:n.-90-13693T>G
XM_017021083.1:c.-90-13693T>G	XP_016876572.1:n.-90-13693T>G
XM_017021084.1:c.-90-13693T>G	XP_016876573.1:n.-90-13693T>G
NM_001291712.2:c.-91+765T>G	NP_001278641.1:n.-91+765T>G
NR_073496.2:n.717-13693T>G