Canonical Allele Identifier: CA707712192

Gene: ESR2

Linked Data

• dbSNP Id: rs1267811241
• gnomAD v3: 14-64253590-GTGTGTGTGTGTGTGTA-G
• gnomAD v4: 14-64253590-GTGTGTGTGTGTGTGTA-G
• MyVariant Identifiers: chr14:g.64720309_64720324del (hg19) ; chr14:g.64253591_64253606del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64253594_64253609del , CM000676.2:g.64253594_64253609del	GRCh38
NC_000014.8:g.64720312_64720327del , CM000676.1:g.64720312_64720327del	GRCh37
NC_000014.7:g.63790065_63790080del	NCBI36
NG_011535.1:g.89945_89960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341099.6:c.1091+3620_1091+3635del MANE Select	ENSP00000343925.4:n.1091+3620_1091+3635del
ENST00000267525.10:c.952+6843_952+6858del	ENSP00000267525.6:n.952+6843_952+6858del
ENST00000341099.5:c.1091+3620_1091+3635del	ENSP00000343925.4:n.1091+3620_1091+3635del
ENST00000344288.10:c.953-3927_953-3912del	ENSP00000345616.6:n.953-3927_953-3912del
ENST00000353772.7:c.1091+3620_1091+3635del	ENSP00000335551.4:n.1091+3620_1091+3635del
ENST00000358599.9:c.1091+3620_1091+3635del	ENSP00000351412.5:n.1091+3620_1091+3635del
ENST00000553796.5:c.1091+3620_1091+3635del	ENSP00000452426.1:n.1091+3620_1091+3635del
ENST00000554520.1:n.780+6843_780+6858del
ENST00000554572.5:c.1091+3620_1091+3635del	ENSP00000450699.1:n.1091+3620_1091+3635del
ENST00000555278.5:c.1091+3620_1091+3635del	ENSP00000450488.1:n.1091+3620_1091+3635del
ENST00000555483.5:n.826+3620_826+3635del
ENST00000555783.1:n.218+3620_218+3635del
ENST00000556275.5:c.1091+3620_1091+3635del	ENSP00000452485.2:n.1091+3620_1091+3635del
ENST00000557772.5:c.1091+3620_1091+3635del	ENSP00000451582.1:n.1091+3620_1091+3635del
NM_001040275.1:c.1091+3620_1091+3635del	NP_001035365.1:n.1091+3620_1091+3635del
NM_001214902.1:c.1091+3620_1091+3635del	NP_001201831.1:n.1091+3620_1091+3635del
NM_001271876.1:c.1091+3620_1091+3635del	NP_001258805.1:n.1091+3620_1091+3635del
NM_001271877.1:c.952+6843_952+6858del	NP_001258806.1:n.952+6843_952+6858del
NM_001291712.1:c.1091+3620_1091+3635del	NP_001278641.1:n.1091+3620_1091+3635del
NM_001291723.1:c.1091+3620_1091+3635del	NP_001278652.1:n.1091+3620_1091+3635del
NM_001437.2:c.1091+3620_1091+3635del	NP_001428.1:n.1091+3620_1091+3635del
NR_073496.1:n.1696-3927_1696-3912del
NR_073497.1:n.1059+3620_1059+3635del
XM_011536545.1:c.1091+3620_1091+3635del	XP_011534847.1:n.1091+3620_1091+3635del
XM_011536546.1:c.1091+3620_1091+3635del	XP_011534848.1:n.1091+3620_1091+3635del
XM_017021079.1:c.1091+3620_1091+3635del	XP_016876568.1:n.1091+3620_1091+3635del
XM_017021080.1:c.1091+3620_1091+3635del	XP_016876569.1:n.1091+3620_1091+3635del
XM_017021081.1:c.1091+3620_1091+3635del	XP_016876570.1:n.1091+3620_1091+3635del
XM_017021082.1:c.1091+3620_1091+3635del	XP_016876571.1:n.1091+3620_1091+3635del
XM_017021083.1:c.1091+3620_1091+3635del	XP_016876572.1:n.1091+3620_1091+3635del
XM_017021084.1:c.1091+3620_1091+3635del	XP_016876573.1:n.1091+3620_1091+3635del
XR_001750187.1:n.1528-3927_1528-3912del
NM_001291712.2:c.1091+3620_1091+3635del	NP_001278641.1:n.1091+3620_1091+3635del
NR_073496.2:n.1759-3927_1759-3912del
NM_001437.3:c.1091+3620_1091+3635del MANE Select	NP_001428.1:n.1091+3620_1091+3635del