Canonical Allele Identifier: CA13940991
Gene: ESR2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.64338283A>G
GRCh37 chr14:g.64805001A>G
gnomAD v2:
14:64805001 A / G
gnomAD v3:
14:64338283 A / G
gnomAD v4:
chr14-64338283-A-G
Joint Max Group AF 0.45057894 (EAS)
Genomes Max Group AF 0.45040279 (EAS)
Exomes Max Group AF 0.28040928 (EAS)
dbSNP:
1256120
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64338283A>G , CM000676.2:g.64338283A>G GRCh38
NC_000014.8:g.64805001A>G , CM000676.1:g.64805001A>G GRCh37
NC_000014.7:g.63874754A>G NCBI36
NG_011535.1:g.5268T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001291712.1:c.-1461T>C NP_001278641.1:n.-1461T>C
NM_001291723.1:c.-476T>C NP_001278652.1:n.-476T>C
NR_073496.1:n.268T>C
XM_017021079.1:c.-784T>C XP_016876568.1:n.-784T>C
XM_017021080.1:c.-1593T>C XP_016876569.1:n.-1593T>C
XM_017021081.1:c.-689T>C XP_016876570.1:n.-689T>C
XM_017021084.1:c.-784T>C XP_016876573.1:n.-784T>C
NM_001291712.2:c.-1461T>C NP_001278641.1:n.-1461T>C
NR_073496.2:n.331T>C
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