Canonical Allele Identifier: CA2625216285

Gene: ESR2

Linked Data

• gnomAD v4: 14-64232119-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64232119C>A , CM000676.2:g.64232119C>A	GRCh38
NC_000014.8:g.64698837C>A , CM000676.1:g.64698837C>A	GRCh37
NC_000014.7:g.63768590C>A	NCBI36
NG_011535.1:g.111432G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341099.6:c.*1018G>T MANE Select	ENSP00000343925.4:n.*1018G>T
ENST00000344288.10:c.*295+2851G>T	ENSP00000345616.6:n.*295+2851G>T
ENST00000353772.7:c.1406+2851G>T	ENSP00000335551.4:n.1406+2851G>T
ENST00000358599.9:c.1406+2851G>T	ENSP00000351412.5:n.1406+2851G>T
ENST00000553796.5:c.1406+2851G>T	ENSP00000452426.1:n.1406+2851G>T
ENST00000554572.5:c.1406+2851G>T	ENSP00000450699.1:n.1406+2851G>T
ENST00000555278.5:c.1406+2851G>T	ENSP00000450488.1:n.1406+2851G>T
ENST00000556275.5:c.1406+2851G>T	ENSP00000452485.2:n.1406+2851G>T
ENST00000557772.5:c.4257G>T	ENSP00000451582.1:n.4257G>T
NM_001040275.1:c.1406+2851G>T	NP_001035365.1:n.1406+2851G>T
NM_001214902.1:c.1406+2851G>T	NP_001201831.1:n.1406+2851G>T
NM_001271876.1:c.1406+2851G>T	NP_001258805.1:n.1406+2851G>T
NM_001291712.1:c.1406+2851G>T	NP_001278641.1:n.1406+2851G>T
NM_001291723.1:c.1406+2851G>T	NP_001278652.1:n.1406+2851G>T
NR_073496.1:n.2010+2851G>T
XM_011536545.1:c.1406+2851G>T	XP_011534847.1:n.1406+2851G>T
XM_011536546.1:c.*1018G>T	XP_011534848.1:n.*1018G>T
XM_017021079.1:c.*1018G>T	XP_016876568.1:n.*1018G>T
XM_017021080.1:c.*1018G>T	XP_016876569.1:n.*1018G>T
XM_017021081.1:c.*1018G>T	XP_016876570.1:n.*1018G>T
XM_017021082.1:c.*1018G>T	XP_016876571.1:n.*1018G>T
XM_017021083.1:c.*1018G>T	XP_016876572.1:n.*1018G>T
XM_017021084.1:c.1406+2851G>T	XP_016876573.1:n.1406+2851G>T
XR_001750187.1:n.1842+2851G>T
NM_001291712.2:c.1406+2851G>T	NP_001278641.1:n.1406+2851G>T
NR_073496.2:n.2073+2851G>T
NM_001437.3:c.*1018G>T MANE Select	NP_001428.1:n.*1018G>T