Canonical Allele Identifier: CA7224572
Community Standard Title: NM_182914.3(SYNE2):c.19747A>G (p.Ile6583Val)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64219297A>G , CM000676.2:g.64219297A>G GRCh38
NC_000014.8:g.64686015A>G , CM000676.1:g.64686015A>G GRCh37
NC_000014.7:g.63755768A>G NCBI36
NG_011756.1:g.371333A>G
NG_011756.2:g.462399A>G

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.19747A>G (SYNE2) MANE Select NP_878918.2:p.Ile6583Val
ENST00000555002.6:c.19747A>G (SYNE2) MANE Select ENSP00000450831.2:p.Ile6583Val
NM_015180.4:c.19678A>G (SYNE2) NP_055995.4:p.Ile6560Val
NM_015180.5:c.19678A>G (SYNE2) NP_055995.4:p.Ile6560Val
NM_015180.6:c.19678A>G (SYNE2) NP_055995.4:p.Ile6560Val
NM_182910.2:c.271A>G (SYNE2) NP_878914.1:p.Ile91Val
NM_182913.2:c.649A>G (SYNE2) NP_878917.1:p.Ile217Val
NM_182913.3:c.649A>G (SYNE2) NP_878917.1:p.Ile217Val
NM_182913.4:c.649A>G (SYNE2) NP_878917.1:p.Ile217Val
NM_182914.2:c.19747A>G (SYNE2) NP_878918.2:p.Ile6583Val
ENST00000344113.8:c.19678A>G (SYNE2) ENSP00000341781.4:p.Ile6560Val
ENST00000357395.7:c.19444A>G (SYNE2) ENSP00000349969.4:p.Ile6482Val
ENST00000358025.7:c.19747A>G (SYNE2) ENSP00000350719.3:p.Ile6583Val
ENST00000394768.6:c.8833A>G (SYNE2) ENSP00000378249.2:p.Ile2945Val
ENST00000441438.2:c.271A>G (SYNE2) ENSP00000396794.2:p.Ile91Val
ENST00000458046.6:c.649A>G (SYNE2) ENSP00000391937.2:p.Ile217Val
ENST00000553289.5:c.*1553A>G (SYNE2) ENSP00000451184.1:n.*1553A>G
ENST00000554584.5:c.19426A>G (SYNE2) ENSP00000452570.1:p.Ile6476Val
ENST00000554805.5:c.1027A>G (SYNE2) ENSP00000450605.1:p.Ile343Val
ENST00000554805.6:n.1597A>G (SYNE2)
ENST00000554928.1:n.371A>G (SYNE2)
ENST00000555002.5:c.9649A>G (SYNE2) ENSP00000450831.1:p.Ile3217Val
ENST00000555022.5:c.1312A>G (SYNE2) ENSP00000451009.1:p.Ile438Val
ENST00000555612.5:c.*1457A>G (SYNE2) ENSP00000451972.1:n.*1457A>G
ENST00000556275.5:c.1406+15673T>C (ESR2) ENSP00000452485.2:n.1406+15673T>C
ENST00000557084.1:c.*489A>G (SYNE2) ENSP00000450789.1:n.*489A>G
XM_005267454.1:c.19747A>G (SYNE2) XP_005267511.1:p.Ile6583Val
XM_005267456.1:c.19747A>G (SYNE2) XP_005267513.1:p.Ile6583Val
XM_005267457.1:c.19747A>G (SYNE2) XP_005267514.1:p.Ile6583Val
XM_005267458.1:c.19678A>G (SYNE2) XP_005267515.1:p.Ile6560Val
XM_005267459.1:c.19678A>G (SYNE2) XP_005267516.1:p.Ile6560Val
XM_011536545.1:c.1406+15673T>C (ESR2) XP_011534847.1:n.1406+15673T>C
XM_011536574.1:c.19789A>G (SYNE2) XP_011534876.1:p.Ile6597Val
XM_011536575.1:c.19789A>G (SYNE2) XP_011534877.1:p.Ile6597Val
XM_011536575.2:c.19789A>G (SYNE2) XP_011534877.1:p.Ile6597Val
XM_011536576.1:c.19789A>G (SYNE2) XP_011534878.1:p.Ile6597Val
XM_011536576.2:c.19789A>G (SYNE2) XP_011534878.1:p.Ile6597Val
XM_011536577.1:c.19789A>G (SYNE2) XP_011534879.1:p.Ile6597Val
XM_011536577.2:c.19789A>G (SYNE2) XP_011534879.1:p.Ile6597Val
XM_011536578.1:c.19789A>G (SYNE2) XP_011534880.1:p.Ile6597Val
XM_011536579.1:c.19789A>G (SYNE2) XP_011534881.1:p.Ile6597Val
XM_011536580.1:c.19789A>G (SYNE2) XP_011534882.1:p.Ile6597Val
XM_011536580.2:c.19789A>G (SYNE2) XP_011534882.1:p.Ile6597Val
XM_011536581.1:c.19720A>G (SYNE2) XP_011534883.1:p.Ile6574Val
XM_011536582.1:c.19672A>G (SYNE2) XP_011534884.1:p.Ile6558Val
XM_011536583.1:c.16594A>G (SYNE2) XP_011534885.1:p.Ile5532Val
XM_017021101.1:c.19789A>G (SYNE2) XP_016876590.1:p.Ile6597Val
XM_017021102.1:c.19720A>G (SYNE2) XP_016876591.1:p.Ile6574Val
XM_017021103.2:c.1729A>G (SYNE2) XP_016876592.1:p.Ile577Val
XM_017021104.2:c.1729A>G (SYNE2) XP_016876593.1:p.Ile577Val