Canonical Allele Identifier: CA262511786

Gene: ESR2

Linked Data

• dbSNP Id: rs144371915
• gnomAD v2: 14-64763668-C-G
• gnomAD v3: 14-64296950-C-G
• gnomAD v4: 14-64296950-C-G
• MyVariant Identifiers: chr14:g.64763668C>G (hg19) ; chr14:g.64296950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64296950C>G , CM000676.2:g.64296950C>G	GRCh38
NC_000014.8:g.64763668C>G , CM000676.1:g.64763668C>G	GRCh37
NC_000014.7:g.63833421C>G	NCBI36
NG_011535.1:g.46601G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358599.9:c.-90-13875G>C	ENSP00000351412.5:n.-90-13875G>C
ENST00000554572.5:c.-91+583G>C	ENSP00000450699.1:n.-91+583G>C
NM_001291712.1:c.-91+583G>C	NP_001278641.1:n.-91+583G>C
NM_001291723.1:c.-90-13875G>C	NP_001278652.1:n.-90-13875G>C
NR_073496.1:n.654-13875G>C
XM_011536546.1:c.-91+4418G>C	XP_011534848.1:n.-91+4418G>C
XM_017021079.1:c.-90-13875G>C	XP_016876568.1:n.-90-13875G>C
XM_017021080.1:c.-90-13875G>C	XP_016876569.1:n.-90-13875G>C
XM_017021081.1:c.-90-13875G>C	XP_016876570.1:n.-90-13875G>C
XM_017021082.1:c.-90-13875G>C	XP_016876571.1:n.-90-13875G>C
XM_017021083.1:c.-90-13875G>C	XP_016876572.1:n.-90-13875G>C
XM_017021084.1:c.-90-13875G>C	XP_016876573.1:n.-90-13875G>C
NM_001291712.2:c.-91+583G>C	NP_001278641.1:n.-91+583G>C
NR_073496.2:n.717-13875G>C