Canonical Allele Identifier: CA14061889

Gene: ESR2

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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