Canonical Allele Identifier: CA2142557790
Community Standard Title: NC_000014.9:g.64227153G=
Gene: ESR2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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