Canonical Allele Identifier: CA614405755

Gene: ESR2

Linked Data

• dbSNP Id: rs1008443302
• gnomAD v2: 14-64704789-GTAATAA-G
• gnomAD v3: 14-64238071-GTAATAA-G
• gnomAD v4: 14-64238071-GTAATAA-G
• MyVariant Identifiers: chr14:g.64704790_64704795del (hg19) ; chr14:g.64238072_64238077del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64238081_64238086del , CM000676.2:g.64238081_64238086del	GRCh38
NC_000014.8:g.64704799_64704804del , CM000676.1:g.64704799_64704804del	GRCh37
NC_000014.7:g.63774552_63774557del	NCBI36
NG_011535.1:g.105474_105479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341099.6:c.1226-2927_1226-2922del MANE Select	ENSP00000343925.4:n.1226-2927_1226-2922del
ENST00000267525.10:c.953-2927_953-2922del	ENSP00000267525.6:n.953-2927_953-2922del
ENST00000341099.5:c.1226-2927_1226-2922del	ENSP00000343925.4:n.1226-2927_1226-2922del
ENST00000344288.10:c.*115-2927_*115-2922del	ENSP00000345616.6:n.*115-2927_*115-2922del
ENST00000353772.7:c.1226-2927_1226-2922del	ENSP00000335551.4:n.1226-2927_1226-2922del
ENST00000358599.9:c.1226-2927_1226-2922del	ENSP00000351412.5:n.1226-2927_1226-2922del
ENST00000553796.5:c.1226-2927_1226-2922del	ENSP00000452426.1:n.1226-2927_1226-2922del
ENST00000554520.1:n.781-2927_781-2922del
ENST00000554572.5:c.1226-2927_1226-2922del	ENSP00000450699.1:n.1226-2927_1226-2922del
ENST00000555278.5:c.1226-2927_1226-2922del	ENSP00000450488.1:n.1226-2927_1226-2922del
ENST00000555483.5:n.961-2927_961-2922del
ENST00000555783.1:n.219-2927_219-2922del
ENST00000556275.5:c.1226-2927_1226-2922del	ENSP00000452485.2:n.1226-2927_1226-2922del
ENST00000557772.5:c.1226-2927_1226-2922del	ENSP00000451582.1:n.1226-2927_1226-2922del
NM_001040275.1:c.1226-2927_1226-2922del	NP_001035365.1:n.1226-2927_1226-2922del
NM_001214902.1:c.1226-2927_1226-2922del	NP_001201831.1:n.1226-2927_1226-2922del
NM_001271876.1:c.1226-2927_1226-2922del	NP_001258805.1:n.1226-2927_1226-2922del
NM_001271877.1:c.953-2927_953-2922del	NP_001258806.1:n.953-2927_953-2922del
NM_001291712.1:c.1226-2927_1226-2922del	NP_001278641.1:n.1226-2927_1226-2922del
NM_001291723.1:c.1226-2927_1226-2922del	NP_001278652.1:n.1226-2927_1226-2922del
NM_001437.2:c.1226-2927_1226-2922del	NP_001428.1:n.1226-2927_1226-2922del
NR_073496.1:n.1830-2927_1830-2922del
NR_073497.1:n.1194-2927_1194-2922del
XM_011536545.1:c.1226-2927_1226-2922del	XP_011534847.1:n.1226-2927_1226-2922del
XM_011536546.1:c.1226-2927_1226-2922del	XP_011534848.1:n.1226-2927_1226-2922del
XM_017021079.1:c.1226-2927_1226-2922del	XP_016876568.1:n.1226-2927_1226-2922del
XM_017021080.1:c.1226-2927_1226-2922del	XP_016876569.1:n.1226-2927_1226-2922del
XM_017021081.1:c.1226-2927_1226-2922del	XP_016876570.1:n.1226-2927_1226-2922del
XM_017021082.1:c.1226-2927_1226-2922del	XP_016876571.1:n.1226-2927_1226-2922del
XM_017021083.1:c.1226-2927_1226-2922del	XP_016876572.1:n.1226-2927_1226-2922del
XM_017021084.1:c.1226-2927_1226-2922del	XP_016876573.1:n.1226-2927_1226-2922del
XR_001750187.1:n.1662-2927_1662-2922del
NM_001291712.2:c.1226-2927_1226-2922del	NP_001278641.1:n.1226-2927_1226-2922del
NR_073496.2:n.1893-2927_1893-2922del
NM_001437.3:c.1226-2927_1226-2922del MANE Select	NP_001428.1:n.1226-2927_1226-2922del