Canonical Allele Identifier: CA7224152
Community Standard Title: NM_182914.3(SYNE2):c.18622C>T (p.Arg6208Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64210023C>T , CM000676.2:g.64210023C>T GRCh38
NC_000014.8:g.64676741C>T , CM000676.1:g.64676741C>T GRCh37
NC_000014.7:g.63746494C>T NCBI36
NG_011756.1:g.362059C>T
NG_011756.2:g.453125C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.18622C>T (SYNE2) MANE Select NP_878918.2:p.Arg6208Cys
ENST00000555002.6:c.18622C>T (SYNE2) MANE Select ENSP00000450831.2:p.Arg6208Cys
NM_015180.4:c.18622C>T (SYNE2) NP_055995.4:p.Arg6208Cys
NM_015180.5:c.18622C>T (SYNE2) NP_055995.4:p.Arg6208Cys
NM_015180.6:c.18622C>T (SYNE2) NP_055995.4:p.Arg6208Cys
NM_182914.2:c.18622C>T (SYNE2) NP_878918.2:p.Arg6208Cys
ENST00000344113.8:c.18622C>T (SYNE2) ENSP00000341781.4:p.Arg6208Cys
ENST00000357395.7:c.18517C>T (SYNE2) ENSP00000349969.4:p.Arg6173Cys
ENST00000358025.7:c.18622C>T (SYNE2) ENSP00000350719.3:p.Arg6208Cys
ENST00000394768.6:c.7777C>T (SYNE2) ENSP00000378249.2:p.Arg2593Cys
ENST00000553289.5:c.*497C>T (SYNE2) ENSP00000451184.1:n.*497C>T
ENST00000553806.5:n.541C>T (SYNE2)
ENST00000554584.5:c.18499C>T (SYNE2) ENSP00000452570.1:p.Arg6167Cys
ENST00000554805.5:c.-30C>T (SYNE2) ENSP00000450605.1:n.-30C>T
ENST00000554805.6:n.541C>T (SYNE2)
ENST00000554997.1:n.416C>T (SYNE2)
ENST00000555002.5:c.8524C>T (SYNE2) ENSP00000450831.1:p.Arg2842Cys
ENST00000555022.5:c.256C>T (SYNE2) ENSP00000451009.1:p.Arg86Cys
ENST00000555612.5:c.*401C>T (SYNE2) ENSP00000451972.1:n.*401C>T
ENST00000556275.5:c.1406+24947G>A (ESR2) ENSP00000452485.2:n.1406+24947G>A
XM_005267454.1:c.18622C>T (SYNE2) XP_005267511.1:p.Arg6208Cys
XM_005267456.1:c.18622C>T (SYNE2) XP_005267513.1:p.Arg6208Cys
XM_005267457.1:c.18622C>T (SYNE2) XP_005267514.1:p.Arg6208Cys
XM_005267458.1:c.18622C>T (SYNE2) XP_005267515.1:p.Arg6208Cys
XM_005267459.1:c.18622C>T (SYNE2) XP_005267516.1:p.Arg6208Cys
XM_011536545.1:c.1406+24947G>A (ESR2) XP_011534847.1:n.1406+24947G>A
XM_011536574.1:c.18622C>T (SYNE2) XP_011534876.1:p.Arg6208Cys
XM_011536575.1:c.18622C>T (SYNE2) XP_011534877.1:p.Arg6208Cys
XM_011536575.2:c.18622C>T (SYNE2) XP_011534877.1:p.Arg6208Cys
XM_011536576.1:c.18622C>T (SYNE2) XP_011534878.1:p.Arg6208Cys
XM_011536576.2:c.18622C>T (SYNE2) XP_011534878.1:p.Arg6208Cys
XM_011536577.1:c.18622C>T (SYNE2) XP_011534879.1:p.Arg6208Cys
XM_011536577.2:c.18622C>T (SYNE2) XP_011534879.1:p.Arg6208Cys
XM_011536578.1:c.18622C>T (SYNE2) XP_011534880.1:p.Arg6208Cys
XM_011536579.1:c.18622C>T (SYNE2) XP_011534881.1:p.Arg6208Cys
XM_011536580.1:c.18622C>T (SYNE2) XP_011534882.1:p.Arg6208Cys
XM_011536580.2:c.18622C>T (SYNE2) XP_011534882.1:p.Arg6208Cys
XM_011536581.1:c.18622C>T (SYNE2) XP_011534883.1:p.Arg6208Cys
XM_011536582.1:c.18505C>T (SYNE2) XP_011534884.1:p.Arg6169Cys
XM_011536583.1:c.15427C>T (SYNE2) XP_011534885.1:p.Arg5143Cys
XM_017021101.1:c.18622C>T (SYNE2) XP_016876590.1:p.Arg6208Cys
XM_017021102.1:c.18553C>T (SYNE2) XP_016876591.1:p.Arg6185Cys
XM_017021103.2:c.604C>T (SYNE2) XP_016876592.1:p.Arg202Cys
XM_017021104.2:c.604C>T (SYNE2) XP_016876593.1:p.Arg202Cys