Canonical Allele Identifier: CA707701406

Gene: SYNE2 ESR2

Linked Data

• dbSNP Id: rs1216729529
• gnomAD v3: 14-64226136-ATTTT-A
• gnomAD v4: 14-64226136-ATTTT-A
• MyVariant Identifiers: chr14:g.64692855_64692858del (hg19) ; chr14:g.64226137_64226140del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64226139_64226142del , CM000676.2:g.64226139_64226142del	GRCh38
NC_000014.8:g.64692857_64692860del , CM000676.1:g.64692857_64692860del	GRCh37
NC_000014.7:g.63762610_63762613del	NCBI36
NG_011535.1:g.117411_117414del
NG_011756.1:g.378175_378178del
NG_011756.2:g.469241_469244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554805.6:n.3190_3193del (SYNE2)
ENST00000555002.6:c.*613_*616del (SYNE2) MANE Select	ENSP00000450831.2:n.*613_*616del
ENST00000344113.8:c.*613_*616del (SYNE2)	ENSP00000341781.4:n.*613_*616del
ENST00000357395.7:c.*575_*578del (SYNE2)	ENSP00000349969.4:n.*575_*578del
ENST00000358025.7:c.*613_*616del (SYNE2)	ENSP00000350719.3:n.*613_*616del
ENST00000394768.6:c.*613_*616del (SYNE2)	ENSP00000378249.2:n.*613_*616del
ENST00000441438.2:c.*613_*616del (SYNE2)	ENSP00000396794.2:n.*613_*616del
ENST00000458046.6:c.*613_*616del (SYNE2)	ENSP00000391937.2:n.*613_*616del
ENST00000553289.5:c.*3146_*3149del (SYNE2)	ENSP00000451184.1:n.*3146_*3149del
ENST00000554805.5:c.*613_*616del (SYNE2)	ENSP00000450605.1:n.*613_*616del
ENST00000555002.5:c.11239_11242del (SYNE2)	ENSP00000450831.1:n.11239_11242del
ENST00000555022.5:c.*613_*616del (SYNE2)	ENSP00000451009.1:n.*613_*616del
ENST00000555612.5:c.*3092_*3095del (SYNE2)	ENSP00000451972.1:n.*3092_*3095del
ENST00000556275.5:c.1406+8830_1406+8833del (ESR2)	ENSP00000452485.2:n.1406+8830_1406+8833del
NM_015180.4:c.*613_*616del (SYNE2)	NP_055995.4:n.*613_*616del
NM_182910.2:c.*613_*616del (SYNE2)	NP_878914.1:n.*613_*616del
NM_182913.2:c.*613_*616del (SYNE2)	NP_878917.1:n.*613_*616del
NM_182914.2:c.*613_*616del (SYNE2)	NP_878918.2:n.*613_*616del
XM_005267454.1:c.*613_*616del (SYNE2)	XP_005267511.1:n.*613_*616del
XM_005267456.1:c.*613_*616del (SYNE2)	XP_005267513.1:n.*613_*616del
XM_005267457.1:c.*613_*616del (SYNE2)	XP_005267514.1:n.*613_*616del
XM_005267458.1:c.*613_*616del (SYNE2)	XP_005267515.1:n.*613_*616del
XM_005267459.1:c.*613_*616del (SYNE2)	XP_005267516.1:n.*613_*616del
XM_011536545.1:c.1406+8830_1406+8833del (ESR2)	XP_011534847.1:n.1406+8830_1406+8833del
XM_011536574.1:c.*613_*616del (SYNE2)	XP_011534876.1:n.*613_*616del
XM_011536575.1:c.*613_*616del (SYNE2)	XP_011534877.1:n.*613_*616del
XM_011536576.1:c.*613_*616del (SYNE2)	XP_011534878.1:n.*613_*616del
XM_011536577.1:c.*613_*616del (SYNE2)	XP_011534879.1:n.*613_*616del
XM_011536578.1:c.*613_*616del (SYNE2)	XP_011534880.1:n.*613_*616del
XM_011536579.1:c.*613_*616del (SYNE2)	XP_011534881.1:n.*613_*616del
XM_011536580.1:c.*613_*616del (SYNE2)	XP_011534882.1:n.*613_*616del
XM_011536581.1:c.*613_*616del (SYNE2)	XP_011534883.1:n.*613_*616del
XM_011536582.1:c.*613_*616del (SYNE2)	XP_011534884.1:n.*613_*616del
XM_011536583.1:c.*613_*616del (SYNE2)	XP_011534885.1:n.*613_*616del
XM_011536575.2:c.*613_*616del (SYNE2)	XP_011534877.1:n.*613_*616del
XM_011536576.2:c.*613_*616del (SYNE2)	XP_011534878.1:n.*613_*616del
XM_011536577.2:c.*613_*616del (SYNE2)	XP_011534879.1:n.*613_*616del
XM_011536580.2:c.*613_*616del (SYNE2)	XP_011534882.1:n.*613_*616del
XM_017021101.1:c.*613_*616del (SYNE2)	XP_016876590.1:n.*613_*616del
XM_017021102.1:c.*613_*616del (SYNE2)	XP_016876591.1:n.*613_*616del
XM_017021103.2:c.*613_*616del (SYNE2)	XP_016876592.1:n.*613_*616del
XM_017021104.2:c.*613_*616del (SYNE2)	XP_016876593.1:n.*613_*616del
NM_015180.5:c.*613_*616del (SYNE2)	NP_055995.4:n.*613_*616del
NM_182913.3:c.*613_*616del (SYNE2)	NP_878917.1:n.*613_*616del
NM_015180.6:c.*613_*616del (SYNE2)	NP_055995.4:n.*613_*616del
NM_182913.4:c.*613_*616del (SYNE2)	NP_878917.1:n.*613_*616del
NM_182914.3:c.*613_*616del (SYNE2) MANE Select	NP_878918.2:n.*613_*616del