Canonical Allele Identifier: CA2539125834
Gene: ESR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64231988_64231989del , CM000676.2:g.64231988_64231989del GRCh38
NC_000014.8:g.64698706_64698707del , CM000676.1:g.64698706_64698707del GRCh37
NC_000014.7:g.63768459_63768460del NCBI36
NG_011535.1:g.111565_111566del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341099.6:c.*1151_*1152del MANE Select ENSP00000343925.4:n.*1151_*1152del
ENST00000344288.10:c.*295+2984_*295+2985del ENSP00000345616.6:n.*295+2984_*295+2985del
ENST00000353772.7:c.1406+2984_1406+2985del ENSP00000335551.4:n.1406+2984_1406+2985del
ENST00000358599.9:c.1406+2984_1406+2985del ENSP00000351412.5:n.1406+2984_1406+2985del
ENST00000553796.5:c.1406+2984_1406+2985del ENSP00000452426.1:n.1406+2984_1406+2985del
ENST00000554572.5:c.1406+2984_1406+2985del ENSP00000450699.1:n.1406+2984_1406+2985del
ENST00000555278.5:c.1406+2984_1406+2985del ENSP00000450488.1:n.1406+2984_1406+2985del
ENST00000556275.5:c.1406+2984_1406+2985del ENSP00000452485.2:n.1406+2984_1406+2985del
ENST00000557772.5:c.4390_4391del ENSP00000451582.1:n.4390_4391del
NM_001040275.1:c.1406+2984_1406+2985del NP_001035365.1:n.1406+2984_1406+2985del
NM_001214902.1:c.1406+2984_1406+2985del NP_001201831.1:n.1406+2984_1406+2985del
NM_001271876.1:c.1406+2984_1406+2985del NP_001258805.1:n.1406+2984_1406+2985del
NM_001291712.1:c.1406+2984_1406+2985del NP_001278641.1:n.1406+2984_1406+2985del
NM_001291723.1:c.1406+2984_1406+2985del NP_001278652.1:n.1406+2984_1406+2985del
NR_073496.1:n.2010+2984_2010+2985del
XM_011536545.1:c.1406+2984_1406+2985del XP_011534847.1:n.1406+2984_1406+2985del
XM_011536546.1:c.*1151_*1152del XP_011534848.1:n.*1151_*1152del
XM_017021079.1:c.*1151_*1152del XP_016876568.1:n.*1151_*1152del
XM_017021080.1:c.*1151_*1152del XP_016876569.1:n.*1151_*1152del
XM_017021081.1:c.*1151_*1152del XP_016876570.1:n.*1151_*1152del
XM_017021082.1:c.*1151_*1152del XP_016876571.1:n.*1151_*1152del
XM_017021083.1:c.*1151_*1152del XP_016876572.1:n.*1151_*1152del
XM_017021084.1:c.1406+2984_1406+2985del XP_016876573.1:n.1406+2984_1406+2985del
XR_001750187.1:n.1842+2984_1842+2985del
NM_001291712.2:c.1406+2984_1406+2985del NP_001278641.1:n.1406+2984_1406+2985del
NR_073496.2:n.2073+2984_2073+2985del
NM_001437.3:c.*1151_*1152del MANE Select NP_001428.1:n.*1151_*1152del