Canonical Allele Identifier: CA2142585705

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64225914C= , CM000676.2:g.64225914C= GRCh38
NC_000014.8:g.64692632C= , CM000676.1:g.64692632C= GRCh37
NC_000014.7:g.63762385C= NCBI36
NG_011535.1:g.117637G=
NG_011756.1:g.377950C=
NG_011756.2:g.469016C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000554805.6:n.2965C= (SYNE2)
ENST00000555002.6:c.*388C= (SYNE2) MANE Select ENSP00000450831.2:n.*388C=
ENST00000344113.8:c.*388C= (SYNE2) ENSP00000341781.4:n.*388C=
ENST00000357395.7:c.*350C= (SYNE2) ENSP00000349969.4:n.*350C=
ENST00000358025.7:c.*388C= (SYNE2) ENSP00000350719.3:n.*388C=
ENST00000394768.6:c.*388C= (SYNE2) ENSP00000378249.2:n.*388C=
ENST00000441438.2:c.*388C= (SYNE2) ENSP00000396794.2:n.*388C=
ENST00000458046.6:c.*388C= (SYNE2) ENSP00000391937.2:n.*388C=
ENST00000553289.5:c.*2921C= (SYNE2) ENSP00000451184.1:n.*2921C=
ENST00000554805.5:c.*388C= (SYNE2) ENSP00000450605.1:n.*388C=
ENST00000555002.5:c.11014C= (SYNE2) ENSP00000450831.1:n.11014C=
ENST00000555022.5:c.*388C= (SYNE2) ENSP00000451009.1:n.*388C=
ENST00000555612.5:c.*2867C= (SYNE2) ENSP00000451972.1:n.*2867C=
ENST00000556275.5:c.1406+9056G= (ESR2) ENSP00000452485.2:n.1406+9056G=
NM_015180.4:c.*388C= (SYNE2) NP_055995.4:n.*388C=
NM_182910.2:c.*388C= (SYNE2) NP_878914.1:n.*388C=
NM_182913.2:c.*388C= (SYNE2) NP_878917.1:n.*388C=
NM_182914.2:c.*388C= (SYNE2) NP_878918.2:n.*388C=
XM_005267454.1:c.*388C= (SYNE2) XP_005267511.1:n.*388C=
XM_005267456.1:c.*388C= (SYNE2) XP_005267513.1:n.*388C=
XM_005267457.1:c.*388C= (SYNE2) XP_005267514.1:n.*388C=
XM_005267458.1:c.*388C= (SYNE2) XP_005267515.1:n.*388C=
XM_005267459.1:c.*388C= (SYNE2) XP_005267516.1:n.*388C=
XM_011536545.1:c.1406+9056G= (ESR2) XP_011534847.1:n.1406+9056G=
XM_011536574.1:c.*388C= (SYNE2) XP_011534876.1:n.*388C=
XM_011536575.1:c.*388C= (SYNE2) XP_011534877.1:n.*388C=
XM_011536576.1:c.*388C= (SYNE2) XP_011534878.1:n.*388C=
XM_011536577.1:c.*388C= (SYNE2) XP_011534879.1:n.*388C=
XM_011536578.1:c.*388C= (SYNE2) XP_011534880.1:n.*388C=
XM_011536579.1:c.*388C= (SYNE2) XP_011534881.1:n.*388C=
XM_011536580.1:c.*388C= (SYNE2) XP_011534882.1:n.*388C=
XM_011536581.1:c.*388C= (SYNE2) XP_011534883.1:n.*388C=
XM_011536582.1:c.*388C= (SYNE2) XP_011534884.1:n.*388C=
XM_011536583.1:c.*388C= (SYNE2) XP_011534885.1:n.*388C=
XM_011536575.2:c.*388C= (SYNE2) XP_011534877.1:n.*388C=
XM_011536576.2:c.*388C= (SYNE2) XP_011534878.1:n.*388C=
XM_011536577.2:c.*388C= (SYNE2) XP_011534879.1:n.*388C=
XM_011536580.2:c.*388C= (SYNE2) XP_011534882.1:n.*388C=
XM_017021101.1:c.*388C= (SYNE2) XP_016876590.1:n.*388C=
XM_017021102.1:c.*388C= (SYNE2) XP_016876591.1:n.*388C=
XM_017021103.2:c.*388C= (SYNE2) XP_016876592.1:n.*388C=
XM_017021104.2:c.*388C= (SYNE2) XP_016876593.1:n.*388C=
NM_015180.5:c.*388C= (SYNE2) NP_055995.4:n.*388C=
NM_182913.3:c.*388C= (SYNE2) NP_878917.1:n.*388C=
NM_015180.6:c.*388C= (SYNE2) NP_055995.4:n.*388C=
NM_182913.4:c.*388C= (SYNE2) NP_878917.1:n.*388C=
NM_182914.3:c.*388C= (SYNE2) MANE Select NP_878918.2:n.*388C=