Canonical Allele Identifier: CA964002471

Gene: ESR2

Linked Data

• dbSNP Id: rs2076033472
• gnomAD v3: 14-64253586-GTGTGTGTGTGTGTGTGTGTATGTA-G
• gnomAD v4: 14-64253586-GTGTGTGTGTGTGTGTGTGTATGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64253596_64253619del , CM000676.2:g.64253596_64253619del	GRCh38
NC_000014.8:g.64720314_64720337del , CM000676.1:g.64720314_64720337del	GRCh37
NC_000014.7:g.63790067_63790090del	NCBI36
NG_011535.1:g.89941_89964del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341099.6:c.1091+3616_1091+3639del MANE Select	ENSP00000343925.4:n.1091+3616_1091+3639del
ENST00000267525.10:c.952+6839_952+6862del	ENSP00000267525.6:n.952+6839_952+6862del
ENST00000341099.5:c.1091+3616_1091+3639del	ENSP00000343925.4:n.1091+3616_1091+3639del
ENST00000344288.10:c.953-3931_953-3908del	ENSP00000345616.6:n.953-3931_953-3908del
ENST00000353772.7:c.1091+3616_1091+3639del	ENSP00000335551.4:n.1091+3616_1091+3639del
ENST00000358599.9:c.1091+3616_1091+3639del	ENSP00000351412.5:n.1091+3616_1091+3639del
ENST00000553796.5:c.1091+3616_1091+3639del	ENSP00000452426.1:n.1091+3616_1091+3639del
ENST00000554520.1:n.780+6839_780+6862del
ENST00000554572.5:c.1091+3616_1091+3639del	ENSP00000450699.1:n.1091+3616_1091+3639del
ENST00000555278.5:c.1091+3616_1091+3639del	ENSP00000450488.1:n.1091+3616_1091+3639del
ENST00000555483.5:n.826+3616_826+3639del
ENST00000555783.1:n.218+3616_218+3639del
ENST00000556275.5:c.1091+3616_1091+3639del	ENSP00000452485.2:n.1091+3616_1091+3639del
ENST00000557772.5:c.1091+3616_1091+3639del	ENSP00000451582.1:n.1091+3616_1091+3639del
NM_001040275.1:c.1091+3616_1091+3639del	NP_001035365.1:n.1091+3616_1091+3639del
NM_001214902.1:c.1091+3616_1091+3639del	NP_001201831.1:n.1091+3616_1091+3639del
NM_001271876.1:c.1091+3616_1091+3639del	NP_001258805.1:n.1091+3616_1091+3639del
NM_001271877.1:c.952+6839_952+6862del	NP_001258806.1:n.952+6839_952+6862del
NM_001291712.1:c.1091+3616_1091+3639del	NP_001278641.1:n.1091+3616_1091+3639del
NM_001291723.1:c.1091+3616_1091+3639del	NP_001278652.1:n.1091+3616_1091+3639del
NM_001437.2:c.1091+3616_1091+3639del	NP_001428.1:n.1091+3616_1091+3639del
NR_073496.1:n.1696-3931_1696-3908del
NR_073497.1:n.1059+3616_1059+3639del
XM_011536545.1:c.1091+3616_1091+3639del	XP_011534847.1:n.1091+3616_1091+3639del
XM_011536546.1:c.1091+3616_1091+3639del	XP_011534848.1:n.1091+3616_1091+3639del
XM_017021079.1:c.1091+3616_1091+3639del	XP_016876568.1:n.1091+3616_1091+3639del
XM_017021080.1:c.1091+3616_1091+3639del	XP_016876569.1:n.1091+3616_1091+3639del
XM_017021081.1:c.1091+3616_1091+3639del	XP_016876570.1:n.1091+3616_1091+3639del
XM_017021082.1:c.1091+3616_1091+3639del	XP_016876571.1:n.1091+3616_1091+3639del
XM_017021083.1:c.1091+3616_1091+3639del	XP_016876572.1:n.1091+3616_1091+3639del
XM_017021084.1:c.1091+3616_1091+3639del	XP_016876573.1:n.1091+3616_1091+3639del
XR_001750187.1:n.1528-3931_1528-3908del
NM_001291712.2:c.1091+3616_1091+3639del	NP_001278641.1:n.1091+3616_1091+3639del
NR_073496.2:n.1759-3931_1759-3908del
NM_001437.3:c.1091+3616_1091+3639del MANE Select	NP_001428.1:n.1091+3616_1091+3639del