Canonical Allele Identifier: CA261839081
Gene: ESR2 HGNC NCBI
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

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