Canonical Allele Identifier: CA2529620522

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64225928_64225936dup , CM000676.2:g.64225928_64225936dup GRCh38
NC_000014.8:g.64692646_64692654dup , CM000676.1:g.64692646_64692654dup GRCh37
NC_000014.7:g.63762399_63762407dup NCBI36
NG_011535.1:g.117616_117624dup
NG_011756.1:g.377964_377972dup
NG_011756.2:g.469030_469038dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000554805.6:n.2979_2987dup (SYNE2)
ENST00000555002.6:c.*402_*410dup (SYNE2) MANE Select ENSP00000450831.2:n.*402_*410dup
ENST00000344113.8:c.*402_*410dup (SYNE2) ENSP00000341781.4:n.*402_*410dup
ENST00000357395.7:c.*364_*372dup (SYNE2) ENSP00000349969.4:n.*364_*372dup
ENST00000358025.7:c.*402_*410dup (SYNE2) ENSP00000350719.3:n.*402_*410dup
ENST00000394768.6:c.*402_*410dup (SYNE2) ENSP00000378249.2:n.*402_*410dup
ENST00000441438.2:c.*402_*410dup (SYNE2) ENSP00000396794.2:n.*402_*410dup
ENST00000458046.6:c.*402_*410dup (SYNE2) ENSP00000391937.2:n.*402_*410dup
ENST00000553289.5:c.*2935_*2943dup (SYNE2) ENSP00000451184.1:n.*2935_*2943dup
ENST00000554805.5:c.*402_*410dup (SYNE2) ENSP00000450605.1:n.*402_*410dup
ENST00000555002.5:c.11028_11036dup (SYNE2) ENSP00000450831.1:n.11028_11036dup
ENST00000555022.5:c.*402_*410dup (SYNE2) ENSP00000451009.1:n.*402_*410dup
ENST00000555612.5:c.*2881_*2889dup (SYNE2) ENSP00000451972.1:n.*2881_*2889dup
ENST00000556275.5:c.1406+9035_1406+9043dup (ESR2) ENSP00000452485.2:n.1406+9035_1406+9043dup
NM_015180.4:c.*402_*410dup (SYNE2) NP_055995.4:n.*402_*410dup
NM_182910.2:c.*402_*410dup (SYNE2) NP_878914.1:n.*402_*410dup
NM_182913.2:c.*402_*410dup (SYNE2) NP_878917.1:n.*402_*410dup
NM_182914.2:c.*402_*410dup (SYNE2) NP_878918.2:n.*402_*410dup
XM_005267454.1:c.*402_*410dup (SYNE2) XP_005267511.1:n.*402_*410dup
XM_005267456.1:c.*402_*410dup (SYNE2) XP_005267513.1:n.*402_*410dup
XM_005267457.1:c.*402_*410dup (SYNE2) XP_005267514.1:n.*402_*410dup
XM_005267458.1:c.*402_*410dup (SYNE2) XP_005267515.1:n.*402_*410dup
XM_005267459.1:c.*402_*410dup (SYNE2) XP_005267516.1:n.*402_*410dup
XM_011536545.1:c.1406+9035_1406+9043dup (ESR2) XP_011534847.1:n.1406+9035_1406+9043dup
XM_011536574.1:c.*402_*410dup (SYNE2) XP_011534876.1:n.*402_*410dup
XM_011536575.1:c.*402_*410dup (SYNE2) XP_011534877.1:n.*402_*410dup
XM_011536576.1:c.*402_*410dup (SYNE2) XP_011534878.1:n.*402_*410dup
XM_011536577.1:c.*402_*410dup (SYNE2) XP_011534879.1:n.*402_*410dup
XM_011536578.1:c.*402_*410dup (SYNE2) XP_011534880.1:n.*402_*410dup
XM_011536579.1:c.*402_*410dup (SYNE2) XP_011534881.1:n.*402_*410dup
XM_011536580.1:c.*402_*410dup (SYNE2) XP_011534882.1:n.*402_*410dup
XM_011536581.1:c.*402_*410dup (SYNE2) XP_011534883.1:n.*402_*410dup
XM_011536582.1:c.*402_*410dup (SYNE2) XP_011534884.1:n.*402_*410dup
XM_011536583.1:c.*402_*410dup (SYNE2) XP_011534885.1:n.*402_*410dup
XM_011536575.2:c.*402_*410dup (SYNE2) XP_011534877.1:n.*402_*410dup
XM_011536576.2:c.*402_*410dup (SYNE2) XP_011534878.1:n.*402_*410dup
XM_011536577.2:c.*402_*410dup (SYNE2) XP_011534879.1:n.*402_*410dup
XM_011536580.2:c.*402_*410dup (SYNE2) XP_011534882.1:n.*402_*410dup
XM_017021101.1:c.*402_*410dup (SYNE2) XP_016876590.1:n.*402_*410dup
XM_017021102.1:c.*402_*410dup (SYNE2) XP_016876591.1:n.*402_*410dup
XM_017021103.2:c.*402_*410dup (SYNE2) XP_016876592.1:n.*402_*410dup
XM_017021104.2:c.*402_*410dup (SYNE2) XP_016876593.1:n.*402_*410dup
NM_015180.5:c.*402_*410dup (SYNE2) NP_055995.4:n.*402_*410dup
NM_182913.3:c.*402_*410dup (SYNE2) NP_878917.1:n.*402_*410dup
NM_015180.6:c.*402_*410dup (SYNE2) NP_055995.4:n.*402_*410dup
NM_182913.4:c.*402_*410dup (SYNE2) NP_878917.1:n.*402_*410dup
NM_182914.3:c.*402_*410dup (SYNE2) MANE Select NP_878918.2:n.*402_*410dup