Canonical Allele Identifier: CA262513205

Gene: ESR2

Linked Data

• dbSNP Id: rs942140869
• gnomAD v3: 14-64308969-GAAAGAAAATAAA-G
• gnomAD v4: 14-64308969-GAAAGAAAATAAA-G
• MyVariant Identifiers: chr14:g.64775688_64775699del (hg19) ; chr14:g.64308970_64308981del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64308978_64308989del , CM000676.2:g.64308978_64308989del	GRCh38
NC_000014.8:g.64775696_64775707del , CM000676.1:g.64775696_64775707del	GRCh37
NC_000014.7:g.63845449_63845460del	NCBI36
NG_011535.1:g.34570_34581del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358599.9:c.-90-25906_-90-25895del	ENSP00000351412.5:n.-90-25906_-90-25895de...
ENST00000554572.5:c.-767-5322_-767-5311del	ENSP00000450699.1:n.-767-5322_-767-5311de...
NM_001291712.1:c.-767-5322_-767-5311del	NP_001278641.1:n.-767-5322_-767-5311del
NM_001291723.1:c.-90-25906_-90-25895del	NP_001278652.1:n.-90-25906_-90-25895del
NR_073496.1:n.654-25906_654-25895del
XM_011536546.1:c.-488+89_-488+100del	XP_011534848.1:n.-488+89_-488+100del
XM_017021079.1:c.-90-25906_-90-25895del	XP_016876568.1:n.-90-25906_-90-25895del
XM_017021080.1:c.-90-25906_-90-25895del	XP_016876569.1:n.-90-25906_-90-25895del
XM_017021081.1:c.-90-25906_-90-25895del	XP_016876570.1:n.-90-25906_-90-25895del
XM_017021082.1:c.-90-25906_-90-25895del	XP_016876571.1:n.-90-25906_-90-25895del
XM_017021083.1:c.-90-25906_-90-25895del	XP_016876572.1:n.-90-25906_-90-25895del
XM_017021084.1:c.-90-25906_-90-25895del	XP_016876573.1:n.-90-25906_-90-25895del
NM_001291712.2:c.-767-5322_-767-5311del	NP_001278641.1:n.-767-5322_-767-5311del
NR_073496.2:n.717-25906_717-25895del