Canonical Allele Identifier: CA13940954

Gene: ESR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64227153G>C , CM000676.2:g.64227153G>C	GRCh38
NC_000014.8:g.64693871G>C , CM000676.1:g.64693871G>C	GRCh37
NC_000014.7:g.63763624G>C	NCBI36
NG_011535.1:g.116398C>G
NG_011756.1:g.379189G>C
NG_011756.2:g.470255G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001040275.1:c.*380C>G	NP_001035365.1:n.*380C>G
NM_001214902.1:c.*737C>G	NP_001201831.1:n.*737C>G
NM_001291712.1:c.*380C>G	NP_001278641.1:n.*380C>G
NM_001291712.2:c.*380C>G	NP_001278641.1:n.*380C>G
NM_001291723.1:c.*380C>G	NP_001278652.1:n.*380C>G
NR_073496.1:n.2472C>G
NR_073496.2:n.2535C>G
ENST00000353772.7:c.*380C>G	ENSP00000335551.4:n.*380C>G
ENST00000554572.5:c.*380C>G	ENSP00000450699.1:n.*380C>G
ENST00000556275.5:c.1406+7817C>G	ENSP00000452485.2:n.1406+7817C>G
XM_011536545.1:c.1406+7817C>G	XP_011534847.1:n.1406+7817C>G
XR_001750187.1:n.2304C>G