Canonical Allele Identifier: CA2142602444
Gene: ESR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64299934T>G , CM000676.2:g.64299934T>G GRCh38
NC_000014.8:g.64766652T>G , CM000676.1:g.64766652T>G GRCh37
NC_000014.7:g.63836405T>G NCBI36
NG_011535.1:g.43617A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358599.9:c.-90-16859A>C ENSP00000351412.5:n.-90-16859A>C
ENST00000554572.5:c.-371+1434A>C ENSP00000450699.1:n.-371+1434A>C
NM_001291712.1:c.-371+1434A>C NP_001278641.1:n.-371+1434A>C
NM_001291723.1:c.-90-16859A>C NP_001278652.1:n.-90-16859A>C
NR_073496.1:n.654-16859A>C
XM_011536546.1:c.-91+1434A>C XP_011534848.1:n.-91+1434A>C
XM_017021079.1:c.-90-16859A>C XP_016876568.1:n.-90-16859A>C
XM_017021080.1:c.-90-16859A>C XP_016876569.1:n.-90-16859A>C
XM_017021081.1:c.-90-16859A>C XP_016876570.1:n.-90-16859A>C
XM_017021082.1:c.-90-16859A>C XP_016876571.1:n.-90-16859A>C
XM_017021083.1:c.-90-16859A>C XP_016876572.1:n.-90-16859A>C
XM_017021084.1:c.-90-16859A>C XP_016876573.1:n.-90-16859A>C
NM_001291712.2:c.-371+1434A>C NP_001278641.1:n.-371+1434A>C
NR_073496.2:n.717-16859A>C