Canonical Allele Identifier: CA614406969

Gene: ESR2

Linked Data

• dbSNP Id: rs752711685
• gnomAD v2: 14-64720278-TTGTGTGTGTG-T
• gnomAD v3: 14-64253560-TTGTGTGTGTG-T
• gnomAD v4: 14-64253560-TTGTGTGTGTG-T
• MyVariant Identifiers: chr14:g.64720279_64720288del (hg19) ; chr14:g.64253561_64253570del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64253596_64253605del , CM000676.2:g.64253596_64253605del	GRCh38
NC_000014.8:g.64720314_64720323del , CM000676.1:g.64720314_64720323del	GRCh37
NC_000014.7:g.63790067_63790076del	NCBI36
NG_011535.1:g.89981_89990del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341099.6:c.1091+3656_1091+3665del MANE Select	ENSP00000343925.4:n.1091+3656_1091+3665del
ENST00000267525.10:c.952+6879_952+6888del	ENSP00000267525.6:n.952+6879_952+6888del
ENST00000341099.5:c.1091+3656_1091+3665del	ENSP00000343925.4:n.1091+3656_1091+3665del
ENST00000344288.10:c.953-3891_953-3882del	ENSP00000345616.6:n.953-3891_953-3882del
ENST00000353772.7:c.1091+3656_1091+3665del	ENSP00000335551.4:n.1091+3656_1091+3665del
ENST00000358599.9:c.1091+3656_1091+3665del	ENSP00000351412.5:n.1091+3656_1091+3665del
ENST00000553796.5:c.1091+3656_1091+3665del	ENSP00000452426.1:n.1091+3656_1091+3665del
ENST00000554520.1:n.780+6879_780+6888del
ENST00000554572.5:c.1091+3656_1091+3665del	ENSP00000450699.1:n.1091+3656_1091+3665del
ENST00000555278.5:c.1091+3656_1091+3665del	ENSP00000450488.1:n.1091+3656_1091+3665del
ENST00000555483.5:n.826+3656_826+3665del
ENST00000555783.1:n.218+3656_218+3665del
ENST00000556275.5:c.1091+3656_1091+3665del	ENSP00000452485.2:n.1091+3656_1091+3665del
ENST00000557772.5:c.1091+3656_1091+3665del	ENSP00000451582.1:n.1091+3656_1091+3665del
NM_001040275.1:c.1091+3656_1091+3665del	NP_001035365.1:n.1091+3656_1091+3665del
NM_001214902.1:c.1091+3656_1091+3665del	NP_001201831.1:n.1091+3656_1091+3665del
NM_001271876.1:c.1091+3656_1091+3665del	NP_001258805.1:n.1091+3656_1091+3665del
NM_001271877.1:c.952+6879_952+6888del	NP_001258806.1:n.952+6879_952+6888del
NM_001291712.1:c.1091+3656_1091+3665del	NP_001278641.1:n.1091+3656_1091+3665del
NM_001291723.1:c.1091+3656_1091+3665del	NP_001278652.1:n.1091+3656_1091+3665del
NM_001437.2:c.1091+3656_1091+3665del	NP_001428.1:n.1091+3656_1091+3665del
NR_073496.1:n.1696-3891_1696-3882del
NR_073497.1:n.1059+3656_1059+3665del
XM_011536545.1:c.1091+3656_1091+3665del	XP_011534847.1:n.1091+3656_1091+3665del
XM_011536546.1:c.1091+3656_1091+3665del	XP_011534848.1:n.1091+3656_1091+3665del
XM_017021079.1:c.1091+3656_1091+3665del	XP_016876568.1:n.1091+3656_1091+3665del
XM_017021080.1:c.1091+3656_1091+3665del	XP_016876569.1:n.1091+3656_1091+3665del
XM_017021081.1:c.1091+3656_1091+3665del	XP_016876570.1:n.1091+3656_1091+3665del
XM_017021082.1:c.1091+3656_1091+3665del	XP_016876571.1:n.1091+3656_1091+3665del
XM_017021083.1:c.1091+3656_1091+3665del	XP_016876572.1:n.1091+3656_1091+3665del
XM_017021084.1:c.1091+3656_1091+3665del	XP_016876573.1:n.1091+3656_1091+3665del
XR_001750187.1:n.1528-3891_1528-3882del
NM_001291712.2:c.1091+3656_1091+3665del	NP_001278641.1:n.1091+3656_1091+3665del
NR_073496.2:n.1759-3891_1759-3882del
NM_001437.3:c.1091+3656_1091+3665del MANE Select	NP_001428.1:n.1091+3656_1091+3665del