Canonical Allele Identifier: CA7224569
Community Standard Title: NM_182914.3(SYNE2):c.19726T>C (p.Leu6576=)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64219276T>C , CM000676.2:g.64219276T>C GRCh38
NC_000014.8:g.64685994T>C , CM000676.1:g.64685994T>C GRCh37
NC_000014.7:g.63755747T>C NCBI36
NG_011756.1:g.371312T>C
NG_011756.2:g.462378T>C

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.19726T>C (SYNE2) MANE Select NP_878918.2:p.Leu6576=
ENST00000555002.6:c.19726T>C (SYNE2) MANE Select ENSP00000450831.2:p.Leu6576=
NM_015180.4:c.19657T>C (SYNE2) NP_055995.4:p.Leu6553=
NM_015180.5:c.19657T>C (SYNE2) NP_055995.4:p.Leu6553=
NM_015180.6:c.19657T>C (SYNE2) NP_055995.4:p.Leu6553=
NM_182910.2:c.250T>C (SYNE2) NP_878914.1:p.Leu84=
NM_182913.2:c.628T>C (SYNE2) NP_878917.1:p.Leu210=
NM_182913.3:c.628T>C (SYNE2) NP_878917.1:p.Leu210=
NM_182913.4:c.628T>C (SYNE2) NP_878917.1:p.Leu210=
NM_182914.2:c.19726T>C (SYNE2) NP_878918.2:p.Leu6576=
ENST00000344113.8:c.19657T>C (SYNE2) ENSP00000341781.4:p.Leu6553=
ENST00000357395.7:c.19423T>C (SYNE2) ENSP00000349969.4:p.Leu6475=
ENST00000358025.7:c.19726T>C (SYNE2) ENSP00000350719.3:p.Leu6576=
ENST00000394768.6:c.8812T>C (SYNE2) ENSP00000378249.2:p.Leu2938=
ENST00000441438.2:c.250T>C (SYNE2) ENSP00000396794.2:p.Leu84=
ENST00000458046.6:c.628T>C (SYNE2) ENSP00000391937.2:p.Leu210=
ENST00000553289.5:c.*1532T>C (SYNE2) ENSP00000451184.1:n.*1532T>C
ENST00000554584.5:c.19405T>C (SYNE2) ENSP00000452570.1:p.Leu6469=
ENST00000554805.5:c.1006T>C (SYNE2) ENSP00000450605.1:p.Leu336=
ENST00000554805.6:n.1576T>C (SYNE2)
ENST00000554928.1:n.350T>C (SYNE2)
ENST00000555002.5:c.9628T>C (SYNE2) ENSP00000450831.1:p.Leu3210=
ENST00000555022.5:c.1291T>C (SYNE2) ENSP00000451009.1:p.Leu431=
ENST00000555612.5:c.*1436T>C (SYNE2) ENSP00000451972.1:n.*1436T>C
ENST00000556275.5:c.1406+15694A>G (ESR2) ENSP00000452485.2:n.1406+15694A>G
ENST00000557084.1:c.*468T>C (SYNE2) ENSP00000450789.1:n.*468T>C
XM_005267454.1:c.19726T>C (SYNE2) XP_005267511.1:p.Leu6576=
XM_005267456.1:c.19726T>C (SYNE2) XP_005267513.1:p.Leu6576=
XM_005267457.1:c.19726T>C (SYNE2) XP_005267514.1:p.Leu6576=
XM_005267458.1:c.19657T>C (SYNE2) XP_005267515.1:p.Leu6553=
XM_005267459.1:c.19657T>C (SYNE2) XP_005267516.1:p.Leu6553=
XM_011536545.1:c.1406+15694A>G (ESR2) XP_011534847.1:n.1406+15694A>G
XM_011536574.1:c.19768T>C (SYNE2) XP_011534876.1:p.Leu6590=
XM_011536575.1:c.19768T>C (SYNE2) XP_011534877.1:p.Leu6590=
XM_011536575.2:c.19768T>C (SYNE2) XP_011534877.1:p.Leu6590=
XM_011536576.1:c.19768T>C (SYNE2) XP_011534878.1:p.Leu6590=
XM_011536576.2:c.19768T>C (SYNE2) XP_011534878.1:p.Leu6590=
XM_011536577.1:c.19768T>C (SYNE2) XP_011534879.1:p.Leu6590=
XM_011536577.2:c.19768T>C (SYNE2) XP_011534879.1:p.Leu6590=
XM_011536578.1:c.19768T>C (SYNE2) XP_011534880.1:p.Leu6590=
XM_011536579.1:c.19768T>C (SYNE2) XP_011534881.1:p.Leu6590=
XM_011536580.1:c.19768T>C (SYNE2) XP_011534882.1:p.Leu6590=
XM_011536580.2:c.19768T>C (SYNE2) XP_011534882.1:p.Leu6590=
XM_011536581.1:c.19699T>C (SYNE2) XP_011534883.1:p.Leu6567=
XM_011536582.1:c.19651T>C (SYNE2) XP_011534884.1:p.Leu6551=
XM_011536583.1:c.16573T>C (SYNE2) XP_011534885.1:p.Leu5525=
XM_017021101.1:c.19768T>C (SYNE2) XP_016876590.1:p.Leu6590=
XM_017021102.1:c.19699T>C (SYNE2) XP_016876591.1:p.Leu6567=
XM_017021103.2:c.1708T>C (SYNE2) XP_016876592.1:p.Leu570=
XM_017021104.2:c.1708T>C (SYNE2) XP_016876593.1:p.Leu570=