Canonical Allele Identifier: CA7224585
Community Standard Title: NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64219357G>A , CM000676.2:g.64219357G>A GRCh38
NC_000014.8:g.64686075G>A , CM000676.1:g.64686075G>A GRCh37
NC_000014.7:g.63755828G>A NCBI36
NG_011756.1:g.371393G>A
NG_011756.2:g.462459G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.19807G>A (SYNE2) MANE Select NP_878918.2:p.Ala6603Thr
ENST00000555002.6:c.19807G>A (SYNE2) MANE Select ENSP00000450831.2:p.Ala6603Thr
NM_015180.4:c.19738G>A (SYNE2) NP_055995.4:p.Ala6580Thr
NM_015180.5:c.19738G>A (SYNE2) NP_055995.4:p.Ala6580Thr
NM_015180.6:c.19738G>A (SYNE2) NP_055995.4:p.Ala6580Thr
NM_182910.2:c.331G>A (SYNE2) NP_878914.1:p.Ala111Thr
NM_182913.2:c.709G>A (SYNE2) NP_878917.1:p.Ala237Thr
NM_182913.3:c.709G>A (SYNE2) NP_878917.1:p.Ala237Thr
NM_182913.4:c.709G>A (SYNE2) NP_878917.1:p.Ala237Thr
NM_182914.2:c.19807G>A (SYNE2) NP_878918.2:p.Ala6603Thr
ENST00000344113.8:c.19738G>A (SYNE2) ENSP00000341781.4:p.Ala6580Thr
ENST00000357395.7:c.19504G>A (SYNE2) ENSP00000349969.4:p.Ala6502Thr
ENST00000358025.7:c.19807G>A (SYNE2) ENSP00000350719.3:p.Ala6603Thr
ENST00000394768.6:c.8893G>A (SYNE2) ENSP00000378249.2:p.Ala2965Thr
ENST00000441438.2:c.331G>A (SYNE2) ENSP00000396794.2:p.Ala111Thr
ENST00000458046.6:c.709G>A (SYNE2) ENSP00000391937.2:p.Ala237Thr
ENST00000553289.5:c.*1613G>A (SYNE2) ENSP00000451184.1:n.*1613G>A
ENST00000554584.5:c.19486G>A (SYNE2) ENSP00000452570.1:p.Ala6496Thr
ENST00000554805.5:c.1087G>A (SYNE2) ENSP00000450605.1:p.Ala363Thr
ENST00000554805.6:n.1657G>A (SYNE2)
ENST00000554928.1:n.431G>A (SYNE2)
ENST00000555002.5:c.9709G>A (SYNE2) ENSP00000450831.1:p.Ala3237Thr
ENST00000555022.5:c.1372G>A (SYNE2) ENSP00000451009.1:p.Ala458Thr
ENST00000555612.5:c.*1517G>A (SYNE2) ENSP00000451972.1:n.*1517G>A
ENST00000556275.5:c.1406+15613C>T (ESR2) ENSP00000452485.2:n.1406+15613C>T
XM_005267454.1:c.19807G>A (SYNE2) XP_005267511.1:p.Ala6603Thr
XM_005267456.1:c.19807G>A (SYNE2) XP_005267513.1:p.Ala6603Thr
XM_005267457.1:c.19807G>A (SYNE2) XP_005267514.1:p.Ala6603Thr
XM_005267458.1:c.19738G>A (SYNE2) XP_005267515.1:p.Ala6580Thr
XM_005267459.1:c.19738G>A (SYNE2) XP_005267516.1:p.Ala6580Thr
XM_011536545.1:c.1406+15613C>T (ESR2) XP_011534847.1:n.1406+15613C>T
XM_011536574.1:c.19849G>A (SYNE2) XP_011534876.1:p.Ala6617Thr
XM_011536575.1:c.19849G>A (SYNE2) XP_011534877.1:p.Ala6617Thr
XM_011536575.2:c.19849G>A (SYNE2) XP_011534877.1:p.Ala6617Thr
XM_011536576.1:c.19849G>A (SYNE2) XP_011534878.1:p.Ala6617Thr
XM_011536576.2:c.19849G>A (SYNE2) XP_011534878.1:p.Ala6617Thr
XM_011536577.1:c.19849G>A (SYNE2) XP_011534879.1:p.Ala6617Thr
XM_011536577.2:c.19849G>A (SYNE2) XP_011534879.1:p.Ala6617Thr
XM_011536578.1:c.19849G>A (SYNE2) XP_011534880.1:p.Ala6617Thr
XM_011536579.1:c.19849G>A (SYNE2) XP_011534881.1:p.Ala6617Thr
XM_011536580.1:c.19849G>A (SYNE2) XP_011534882.1:p.Ala6617Thr
XM_011536580.2:c.19849G>A (SYNE2) XP_011534882.1:p.Ala6617Thr
XM_011536581.1:c.19780G>A (SYNE2) XP_011534883.1:p.Ala6594Thr
XM_011536582.1:c.19732G>A (SYNE2) XP_011534884.1:p.Ala6578Thr
XM_011536583.1:c.16654G>A (SYNE2) XP_011534885.1:p.Ala5552Thr
XM_017021101.1:c.19849G>A (SYNE2) XP_016876590.1:p.Ala6617Thr
XM_017021102.1:c.19780G>A (SYNE2) XP_016876591.1:p.Ala6594Thr
XM_017021103.2:c.1789G>A (SYNE2) XP_016876592.1:p.Ala597Thr
XM_017021104.2:c.1789G>A (SYNE2) XP_016876593.1:p.Ala597Thr