Canonical Allele Identifier: CA2625216250

Gene: ESR2

Linked Data

• gnomAD v4: 14-64232054-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64232057_64232058del , CM000676.2:g.64232057_64232058del	GRCh38
NC_000014.8:g.64698775_64698776del , CM000676.1:g.64698775_64698776del	GRCh37
NC_000014.7:g.63768528_63768529del	NCBI36
NG_011535.1:g.111495_111496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341099.6:c.*1081_*1082del MANE Select	ENSP00000343925.4:n.*1081_*1082del
ENST00000344288.10:c.*295+2914_*295+2915del	ENSP00000345616.6:n.*295+2914_*295+2915del
ENST00000353772.7:c.1406+2914_1406+2915del	ENSP00000335551.4:n.1406+2914_1406+2915del
ENST00000358599.9:c.1406+2914_1406+2915del	ENSP00000351412.5:n.1406+2914_1406+2915del
ENST00000553796.5:c.1406+2914_1406+2915del	ENSP00000452426.1:n.1406+2914_1406+2915del
ENST00000554572.5:c.1406+2914_1406+2915del	ENSP00000450699.1:n.1406+2914_1406+2915del
ENST00000555278.5:c.1406+2914_1406+2915del	ENSP00000450488.1:n.1406+2914_1406+2915del
ENST00000556275.5:c.1406+2914_1406+2915del	ENSP00000452485.2:n.1406+2914_1406+2915del
ENST00000557772.5:c.4320_4321del	ENSP00000451582.1:n.4320_4321del
NM_001040275.1:c.1406+2914_1406+2915del	NP_001035365.1:n.1406+2914_1406+2915del
NM_001214902.1:c.1406+2914_1406+2915del	NP_001201831.1:n.1406+2914_1406+2915del
NM_001271876.1:c.1406+2914_1406+2915del	NP_001258805.1:n.1406+2914_1406+2915del
NM_001291712.1:c.1406+2914_1406+2915del	NP_001278641.1:n.1406+2914_1406+2915del
NM_001291723.1:c.1406+2914_1406+2915del	NP_001278652.1:n.1406+2914_1406+2915del
NR_073496.1:n.2010+2914_2010+2915del
XM_011536545.1:c.1406+2914_1406+2915del	XP_011534847.1:n.1406+2914_1406+2915del
XM_011536546.1:c.*1081_*1082del	XP_011534848.1:n.*1081_*1082del
XM_017021079.1:c.*1081_*1082del	XP_016876568.1:n.*1081_*1082del
XM_017021080.1:c.*1081_*1082del	XP_016876569.1:n.*1081_*1082del
XM_017021081.1:c.*1081_*1082del	XP_016876570.1:n.*1081_*1082del
XM_017021082.1:c.*1081_*1082del	XP_016876571.1:n.*1081_*1082del
XM_017021083.1:c.*1081_*1082del	XP_016876572.1:n.*1081_*1082del
XM_017021084.1:c.1406+2914_1406+2915del	XP_016876573.1:n.1406+2914_1406+2915del
XR_001750187.1:n.1842+2914_1842+2915del
NM_001291712.2:c.1406+2914_1406+2915del	NP_001278641.1:n.1406+2914_1406+2915del
NR_073496.2:n.2073+2914_2073+2915del
NM_001437.3:c.*1081_*1082del MANE Select	NP_001428.1:n.*1081_*1082del