Canonical Allele Identifier: CA2142558205
Gene: ESR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64227477C>G , CM000676.2:g.64227477C>G GRCh38
NC_000014.8:g.64694195C>G , CM000676.1:g.64694195C>G GRCh37
NC_000014.7:g.63763948C>G NCBI36
NG_011535.1:g.116074G>C
NG_011756.1:g.379513C>G
NG_011756.2:g.470579C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000353772.7:c.*56G>C ENSP00000335551.4:n.*56G>C
ENST00000358599.9:c.*56G>C ENSP00000351412.5:n.*56G>C
ENST00000554572.5:c.*56G>C ENSP00000450699.1:n.*56G>C
ENST00000555278.5:c.1859G>C ENSP00000450488.1:n.1859G>C
ENST00000556275.5:c.1406+7493G>C ENSP00000452485.2:n.1406+7493G>C
NM_001040275.1:c.*56G>C NP_001035365.1:n.*56G>C
NM_001214902.1:c.*413G>C NP_001201831.1:n.*413G>C
NM_001291712.1:c.*56G>C NP_001278641.1:n.*56G>C
NM_001291723.1:c.*56G>C NP_001278652.1:n.*56G>C
NR_073496.1:n.2148G>C
XM_011536545.1:c.1406+7493G>C XP_011534847.1:n.1406+7493G>C
XM_017021084.1:c.*56G>C XP_016876573.1:n.*56G>C
XR_001750187.1:n.1980G>C
NM_001291712.2:c.*56G>C NP_001278641.1:n.*56G>C
NR_073496.2:n.2211G>C