Canonical Allele Identifier: CA14032152
Gene: ESR2 HGNC NCBI
dbSNP:
10137185
gnomAD v2:
14:64775776 C / T
gnomAD v3:
14:64309058 C / T
gnomAD v4:
chr14-64309058-C-T
Joint Max Group AF 0.29992752 (AFR)
Genomes Max Group AF 0.29992752 (AFR)
MyVariant.info:
GRCh38 chr14:g.64309058C>T
GRCh37 chr14:g.64775776C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64309058C>T , CM000676.2:g.64309058C>T GRCh38
NC_000014.8:g.64775776C>T , CM000676.1:g.64775776C>T GRCh37
NC_000014.7:g.63845529C>T NCBI36
NG_011535.1:g.34493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358599.9:c.-90-25983G>A ENSP00000351412.5:n.-90-25983G>A
ENST00000554572.5:c.-767-5399G>A ENSP00000450699.1:n.-767-5399G>A
NM_001291712.1:c.-767-5399G>A NP_001278641.1:n.-767-5399G>A
NM_001291723.1:c.-90-25983G>A NP_001278652.1:n.-90-25983G>A
NR_073496.1:n.654-25983G>A
XM_011536546.1:c.-488+12G>A XP_011534848.1:n.-488+12G>A
XM_017021079.1:c.-90-25983G>A XP_016876568.1:n.-90-25983G>A
XM_017021080.1:c.-90-25983G>A XP_016876569.1:n.-90-25983G>A
XM_017021081.1:c.-90-25983G>A XP_016876570.1:n.-90-25983G>A
XM_017021082.1:c.-90-25983G>A XP_016876571.1:n.-90-25983G>A
XM_017021083.1:c.-90-25983G>A XP_016876572.1:n.-90-25983G>A
XM_017021084.1:c.-90-25983G>A XP_016876573.1:n.-90-25983G>A
NM_001291712.2:c.-767-5399G>A NP_001278641.1:n.-767-5399G>A
NR_073496.2:n.717-25983G>A
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