Canonical Allele Identifier: CA7224945
Community Standard Title: NM_182914.3(SYNE2):c.20551C>G (p.Leu6851Val)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64225353C>G , CM000676.2:g.64225353C>G GRCh38
NC_000014.8:g.64692071C>G , CM000676.1:g.64692071C>G GRCh37
NC_000014.7:g.63761824C>G NCBI36
NG_011535.1:g.118198G>C
NG_011756.1:g.377389C>G
NG_011756.2:g.468455C>G

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.20551C>G (SYNE2) MANE Select NP_878918.2:p.Leu6851Val
ENST00000555002.6:c.20551C>G (SYNE2) MANE Select ENSP00000450831.2:p.Leu6851Val
NM_015180.4:c.20485C>G (SYNE2) NP_055995.4:p.Leu6829Val
NM_015180.5:c.20485C>G (SYNE2) NP_055995.4:p.Leu6829Val
NM_015180.6:c.20485C>G (SYNE2) NP_055995.4:p.Leu6829Val
NM_182910.2:c.1117C>G (SYNE2) NP_878914.1:p.Leu373Val
NM_182913.2:c.1498C>G (SYNE2) NP_878917.1:p.Leu500Val
NM_182913.3:c.1498C>G (SYNE2) NP_878917.1:p.Leu500Val
NM_182913.4:c.1498C>G (SYNE2) NP_878917.1:p.Leu500Val
NM_182914.2:c.20551C>G (SYNE2) NP_878918.2:p.Leu6851Val
ENST00000344113.8:c.20485C>G (SYNE2) ENSP00000341781.4:p.Leu6829Val
ENST00000357395.7:c.20264C>G (SYNE2) ENSP00000349969.4:p.Pro6755Arg
ENST00000358025.7:c.20551C>G (SYNE2) ENSP00000350719.3:p.Leu6851Val
ENST00000394768.6:c.9640C>G (SYNE2) ENSP00000378249.2:p.Leu3214Val
ENST00000441438.2:c.1117C>G (SYNE2) ENSP00000396794.2:p.Leu373Val
ENST00000458046.6:c.1498C>G (SYNE2) ENSP00000391937.2:p.Leu500Val
ENST00000553289.5:c.*2360C>G (SYNE2) ENSP00000451184.1:n.*2360C>G
ENST00000554584.5:c.20246C>G (SYNE2) ENSP00000452570.1:p.Pro6749Arg
ENST00000554805.5:c.1834C>G (SYNE2) ENSP00000450605.1:p.Leu612Val
ENST00000554805.6:n.2404C>G (SYNE2)
ENST00000555002.5:c.10453C>G (SYNE2) ENSP00000450831.1:p.Leu3485Val
ENST00000555022.5:c.2119C>G (SYNE2) ENSP00000451009.1:p.Leu707Val
ENST00000555612.5:c.*2306C>G (SYNE2) ENSP00000451972.1:n.*2306C>G
ENST00000556275.5:c.1406+9617G>C (ESR2) ENSP00000452485.2:n.1406+9617G>C
XM_005267454.1:c.20596C>G (SYNE2) XP_005267511.1:p.Leu6866Val
XM_005267456.1:c.20593C>G (SYNE2) XP_005267513.1:p.Leu6865Val
XM_005267457.1:c.20554C>G (SYNE2) XP_005267514.1:p.Leu6852Val
XM_005267458.1:c.20527C>G (SYNE2) XP_005267515.1:p.Leu6843Val
XM_005267459.1:c.20482C>G (SYNE2) XP_005267516.1:p.Leu6828Val
XM_011536545.1:c.1406+9617G>C (ESR2) XP_011534847.1:n.1406+9617G>C
XM_011536574.1:c.20638C>G (SYNE2) XP_011534876.1:p.Leu6880Val
XM_011536575.1:c.20638C>G (SYNE2) XP_011534877.1:p.Leu6880Val
XM_011536575.2:c.20638C>G (SYNE2) XP_011534877.1:p.Leu6880Val
XM_011536576.1:c.20638C>G (SYNE2) XP_011534878.1:p.Leu6880Val
XM_011536576.2:c.20638C>G (SYNE2) XP_011534878.1:p.Leu6880Val
XM_011536577.1:c.20638C>G (SYNE2) XP_011534879.1:p.Leu6880Val
XM_011536577.2:c.20638C>G (SYNE2) XP_011534879.1:p.Leu6880Val
XM_011536578.1:c.20635C>G (SYNE2) XP_011534880.1:p.Leu6879Val
XM_011536579.1:c.20596C>G (SYNE2) XP_011534881.1:p.Leu6866Val
XM_011536580.1:c.20593C>G (SYNE2) XP_011534882.1:p.Leu6865Val
XM_011536580.2:c.20593C>G (SYNE2) XP_011534882.1:p.Leu6865Val
XM_011536581.1:c.20569C>G (SYNE2) XP_011534883.1:p.Leu6857Val
XM_011536582.1:c.20521C>G (SYNE2) XP_011534884.1:p.Leu6841Val
XM_011536583.1:c.17443C>G (SYNE2) XP_011534885.1:p.Leu5815Val
XM_017021101.1:c.20638C>G (SYNE2) XP_016876590.1:p.Leu6880Val
XM_017021102.1:c.20569C>G (SYNE2) XP_016876591.1:p.Leu6857Val
XM_017021103.2:c.2578C>G (SYNE2) XP_016876592.1:p.Leu860Val
XM_017021104.2:c.2575C>G (SYNE2) XP_016876593.1:p.Leu859Val