Canonical Allele Identifier: CA7224851
Community Standard Title: NM_182914.3(SYNE2):c.20395C>T (p.Pro6799Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64224473C>T , CM000676.2:g.64224473C>T GRCh38
NC_000014.8:g.64691191C>T , CM000676.1:g.64691191C>T GRCh37
NC_000014.7:g.63760944C>T NCBI36
NG_011756.1:g.376509C>T
NG_011756.2:g.467575C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.20395C>T (SYNE2) MANE Select NP_878918.2:p.Pro6799Ser
ENST00000555002.6:c.20395C>T (SYNE2) MANE Select ENSP00000450831.2:p.Pro6799Ser
NM_015180.4:c.20326C>T (SYNE2) NP_055995.4:p.Pro6776Ser
NM_015180.5:c.20326C>T (SYNE2) NP_055995.4:p.Pro6776Ser
NM_015180.6:c.20326C>T (SYNE2) NP_055995.4:p.Pro6776Ser
NM_182910.2:c.961C>T (SYNE2) NP_878914.1:p.Pro321Ser
NM_182913.2:c.1339C>T (SYNE2) NP_878917.1:p.Pro447Ser
NM_182913.3:c.1339C>T (SYNE2) NP_878917.1:p.Pro447Ser
NM_182913.4:c.1339C>T (SYNE2) NP_878917.1:p.Pro447Ser
NM_182914.2:c.20395C>T (SYNE2) NP_878918.2:p.Pro6799Ser
ENST00000344113.8:c.20326C>T (SYNE2) ENSP00000341781.4:p.Pro6776Ser
ENST00000357395.7:c.20092C>T (SYNE2) ENSP00000349969.4:p.Pro6698Ser
ENST00000358025.7:c.20395C>T (SYNE2) ENSP00000350719.3:p.Pro6799Ser
ENST00000394768.6:c.9481C>T (SYNE2) ENSP00000378249.2:p.Pro3161Ser
ENST00000441438.2:c.961C>T (SYNE2) ENSP00000396794.2:p.Pro321Ser
ENST00000458046.6:c.1339C>T (SYNE2) ENSP00000391937.2:p.Pro447Ser
ENST00000553289.5:c.*2201C>T (SYNE2) ENSP00000451184.1:n.*2201C>T
ENST00000554584.5:c.20074C>T (SYNE2) ENSP00000452570.1:p.Pro6692Ser
ENST00000554805.5:c.1675C>T (SYNE2) ENSP00000450605.1:p.Pro559Ser
ENST00000554805.6:n.2245C>T (SYNE2)
ENST00000555002.5:c.10297C>T (SYNE2) ENSP00000450831.1:p.Pro3433Ser
ENST00000555022.5:c.1960C>T (SYNE2) ENSP00000451009.1:p.Pro654Ser
ENST00000555612.5:c.*2147C>T (SYNE2) ENSP00000451972.1:n.*2147C>T
ENST00000556275.5:c.1406+10497G>A (ESR2) ENSP00000452485.2:n.1406+10497G>A
XM_005267454.1:c.20437C>T (SYNE2) XP_005267511.1:p.Pro6813Ser
XM_005267456.1:c.20437C>T (SYNE2) XP_005267513.1:p.Pro6813Ser
XM_005267457.1:c.20395C>T (SYNE2) XP_005267514.1:p.Pro6799Ser
XM_005267458.1:c.20368C>T (SYNE2) XP_005267515.1:p.Pro6790Ser
XM_005267459.1:c.20326C>T (SYNE2) XP_005267516.1:p.Pro6776Ser
XM_011536545.1:c.1406+10497G>A (ESR2) XP_011534847.1:n.1406+10497G>A
XM_011536574.1:c.20479C>T (SYNE2) XP_011534876.1:p.Pro6827Ser
XM_011536575.1:c.20479C>T (SYNE2) XP_011534877.1:p.Pro6827Ser
XM_011536575.2:c.20479C>T (SYNE2) XP_011534877.1:p.Pro6827Ser
XM_011536576.1:c.20479C>T (SYNE2) XP_011534878.1:p.Pro6827Ser
XM_011536576.2:c.20479C>T (SYNE2) XP_011534878.1:p.Pro6827Ser
XM_011536577.1:c.20479C>T (SYNE2) XP_011534879.1:p.Pro6827Ser
XM_011536577.2:c.20479C>T (SYNE2) XP_011534879.1:p.Pro6827Ser
XM_011536578.1:c.20479C>T (SYNE2) XP_011534880.1:p.Pro6827Ser
XM_011536579.1:c.20437C>T (SYNE2) XP_011534881.1:p.Pro6813Ser
XM_011536580.1:c.20437C>T (SYNE2) XP_011534882.1:p.Pro6813Ser
XM_011536580.2:c.20437C>T (SYNE2) XP_011534882.1:p.Pro6813Ser
XM_011536581.1:c.20410C>T (SYNE2) XP_011534883.1:p.Pro6804Ser
XM_011536582.1:c.20362C>T (SYNE2) XP_011534884.1:p.Pro6788Ser
XM_011536583.1:c.17284C>T (SYNE2) XP_011534885.1:p.Pro5762Ser
XM_017021101.1:c.20479C>T (SYNE2) XP_016876590.1:p.Pro6827Ser
XM_017021102.1:c.20410C>T (SYNE2) XP_016876591.1:p.Pro6804Ser
XM_017021103.2:c.2419C>T (SYNE2) XP_016876592.1:p.Pro807Ser
XM_017021104.2:c.2419C>T (SYNE2) XP_016876593.1:p.Pro807Ser