Canonical Allele Identifier: CA7224650
Community Standard Title: NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64220551C>T , CM000676.2:g.64220551C>T GRCh38
NC_000014.8:g.64687269C>T , CM000676.1:g.64687269C>T GRCh37
NC_000014.7:g.63757022C>T NCBI36
NG_011756.1:g.372587C>T
NG_011756.2:g.463653C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.19975C>T (SYNE2) MANE Select NP_878918.2:p.Arg6659Cys
ENST00000555002.6:c.19975C>T (SYNE2) MANE Select ENSP00000450831.2:p.Arg6659Cys
NM_015180.4:c.19906C>T (SYNE2) NP_055995.4:p.Arg6636Cys
NM_015180.5:c.19906C>T (SYNE2) NP_055995.4:p.Arg6636Cys
NM_015180.6:c.19906C>T (SYNE2) NP_055995.4:p.Arg6636Cys
NM_182910.2:c.499C>T (SYNE2) NP_878914.1:p.Arg167Cys
NM_182913.2:c.877C>T (SYNE2) NP_878917.1:p.Arg293Cys
NM_182913.3:c.877C>T (SYNE2) NP_878917.1:p.Arg293Cys
NM_182913.4:c.877C>T (SYNE2) NP_878917.1:p.Arg293Cys
NM_182914.2:c.19975C>T (SYNE2) NP_878918.2:p.Arg6659Cys
ENST00000344113.8:c.19906C>T (SYNE2) ENSP00000341781.4:p.Arg6636Cys
ENST00000357395.7:c.19672C>T (SYNE2) ENSP00000349969.4:p.Arg6558Cys
ENST00000358025.7:c.19975C>T (SYNE2) ENSP00000350719.3:p.Arg6659Cys
ENST00000394768.6:c.9061C>T (SYNE2) ENSP00000378249.2:p.Arg3021Cys
ENST00000441438.2:c.499C>T (SYNE2) ENSP00000396794.2:p.Arg167Cys
ENST00000458046.6:c.877C>T (SYNE2) ENSP00000391937.2:p.Arg293Cys
ENST00000553289.5:c.*1781C>T (SYNE2) ENSP00000451184.1:n.*1781C>T
ENST00000554584.5:c.19654C>T (SYNE2) ENSP00000452570.1:p.Arg6552Cys
ENST00000554805.5:c.1255C>T (SYNE2) ENSP00000450605.1:p.Arg419Cys
ENST00000554805.6:n.1825C>T (SYNE2)
ENST00000554928.1:n.599C>T (SYNE2)
ENST00000555002.5:c.9877C>T (SYNE2) ENSP00000450831.1:p.Arg3293Cys
ENST00000555022.5:c.1540C>T (SYNE2) ENSP00000451009.1:p.Arg514Cys
ENST00000555612.5:c.*1685C>T (SYNE2) ENSP00000451972.1:n.*1685C>T
ENST00000556275.5:c.1406+14419G>A (ESR2) ENSP00000452485.2:n.1406+14419G>A
XM_005267454.1:c.19975C>T (SYNE2) XP_005267511.1:p.Arg6659Cys
XM_005267456.1:c.19975C>T (SYNE2) XP_005267513.1:p.Arg6659Cys
XM_005267457.1:c.19975C>T (SYNE2) XP_005267514.1:p.Arg6659Cys
XM_005267458.1:c.19906C>T (SYNE2) XP_005267515.1:p.Arg6636Cys
XM_005267459.1:c.19906C>T (SYNE2) XP_005267516.1:p.Arg6636Cys
XM_011536545.1:c.1406+14419G>A (ESR2) XP_011534847.1:n.1406+14419G>A
XM_011536574.1:c.20017C>T (SYNE2) XP_011534876.1:p.Arg6673Cys
XM_011536575.1:c.20017C>T (SYNE2) XP_011534877.1:p.Arg6673Cys
XM_011536575.2:c.20017C>T (SYNE2) XP_011534877.1:p.Arg6673Cys
XM_011536576.1:c.20017C>T (SYNE2) XP_011534878.1:p.Arg6673Cys
XM_011536576.2:c.20017C>T (SYNE2) XP_011534878.1:p.Arg6673Cys
XM_011536577.1:c.20017C>T (SYNE2) XP_011534879.1:p.Arg6673Cys
XM_011536577.2:c.20017C>T (SYNE2) XP_011534879.1:p.Arg6673Cys
XM_011536578.1:c.20017C>T (SYNE2) XP_011534880.1:p.Arg6673Cys
XM_011536579.1:c.20017C>T (SYNE2) XP_011534881.1:p.Arg6673Cys
XM_011536580.1:c.20017C>T (SYNE2) XP_011534882.1:p.Arg6673Cys
XM_011536580.2:c.20017C>T (SYNE2) XP_011534882.1:p.Arg6673Cys
XM_011536581.1:c.19948C>T (SYNE2) XP_011534883.1:p.Arg6650Cys
XM_011536582.1:c.19900C>T (SYNE2) XP_011534884.1:p.Arg6634Cys
XM_011536583.1:c.16822C>T (SYNE2) XP_011534885.1:p.Arg5608Cys
XM_017021101.1:c.20017C>T (SYNE2) XP_016876590.1:p.Arg6673Cys
XM_017021102.1:c.19948C>T (SYNE2) XP_016876591.1:p.Arg6650Cys
XM_017021103.2:c.1957C>T (SYNE2) XP_016876592.1:p.Arg653Cys
XM_017021104.2:c.1957C>T (SYNE2) XP_016876593.1:p.Arg653Cys