Canonical Allele Identifier: CA389986333

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64225504C>G , CM000676.2:g.64225504C>G GRCh38
NC_000014.8:g.64692222C>G , CM000676.1:g.64692222C>G GRCh37
NC_000014.7:g.63761975C>G NCBI36
NG_011535.1:g.118047G>C
NG_011756.1:g.377540C>G
NG_011756.2:g.468606C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000554805.6:n.2555C>G (SYNE2)
ENST00000555002.6:c.20702C>G (SYNE2) MANE Select ENSP00000450831.2:p.Thr6901Ser
ENST00000344113.8:c.20636C>G (SYNE2) ENSP00000341781.4:p.Thr6879Ser
ENST00000357395.7:c.20415C>G (SYNE2) ENSP00000349969.4:p.His6805Gln
ENST00000358025.7:c.20702C>G (SYNE2) ENSP00000350719.3:p.Thr6901Ser
ENST00000394768.6:c.9791C>G (SYNE2) ENSP00000378249.2:p.Thr3264Ser
ENST00000441438.2:c.1268C>G (SYNE2) ENSP00000396794.2:p.Thr423Ser
ENST00000458046.6:c.1649C>G (SYNE2) ENSP00000391937.2:p.Thr550Ser
ENST00000553289.5:c.*2511C>G (SYNE2) ENSP00000451184.1:n.*2511C>G
ENST00000554584.5:c.20397C>G (SYNE2) ENSP00000452570.1:p.His6799Gln
ENST00000554805.5:c.1985C>G (SYNE2) ENSP00000450605.1:p.Thr662Ser
ENST00000555002.5:c.10604C>G (SYNE2) ENSP00000450831.1:p.Thr3535Ser
ENST00000555022.5:c.2270C>G (SYNE2) ENSP00000451009.1:p.Thr757Ser
ENST00000555612.5:c.*2457C>G (SYNE2) ENSP00000451972.1:n.*2457C>G
ENST00000556275.5:c.1406+9466G>C (ESR2) ENSP00000452485.2:n.1406+9466G>C
NM_015180.4:c.20636C>G (SYNE2) NP_055995.4:p.Thr6879Ser
NM_182910.2:c.1268C>G (SYNE2) NP_878914.1:p.Thr423Ser
NM_182913.2:c.1649C>G (SYNE2) NP_878917.1:p.Thr550Ser
NM_182914.2:c.20702C>G (SYNE2) NP_878918.2:p.Thr6901Ser
XM_005267454.1:c.20747C>G (SYNE2) XP_005267511.1:p.Thr6916Ser
XM_005267456.1:c.20744C>G (SYNE2) XP_005267513.1:p.Thr6915Ser
XM_005267457.1:c.20705C>G (SYNE2) XP_005267514.1:p.Thr6902Ser
XM_005267458.1:c.20678C>G (SYNE2) XP_005267515.1:p.Thr6893Ser
XM_005267459.1:c.20633C>G (SYNE2) XP_005267516.1:p.Thr6878Ser
XM_011536545.1:c.1406+9466G>C (ESR2) XP_011534847.1:n.1406+9466G>C
XM_011536574.1:c.20789C>G (SYNE2) XP_011534876.1:p.Thr6930Ser
XM_011536575.1:c.20789C>G (SYNE2) XP_011534877.1:p.Thr6930Ser
XM_011536576.1:c.20789C>G (SYNE2) XP_011534878.1:p.Thr6930Ser
XM_011536577.1:c.20789C>G (SYNE2) XP_011534879.1:p.Thr6930Ser
XM_011536578.1:c.20786C>G (SYNE2) XP_011534880.1:p.Thr6929Ser
XM_011536579.1:c.20747C>G (SYNE2) XP_011534881.1:p.Thr6916Ser
XM_011536580.1:c.20744C>G (SYNE2) XP_011534882.1:p.Thr6915Ser
XM_011536581.1:c.20720C>G (SYNE2) XP_011534883.1:p.Thr6907Ser
XM_011536582.1:c.20672C>G (SYNE2) XP_011534884.1:p.Thr6891Ser
XM_011536583.1:c.17594C>G (SYNE2) XP_011534885.1:p.Thr5865Ser
XM_011536575.2:c.20789C>G (SYNE2) XP_011534877.1:p.Thr6930Ser
XM_011536576.2:c.20789C>G (SYNE2) XP_011534878.1:p.Thr6930Ser
XM_011536577.2:c.20789C>G (SYNE2) XP_011534879.1:p.Thr6930Ser
XM_011536580.2:c.20744C>G (SYNE2) XP_011534882.1:p.Thr6915Ser
XM_017021101.1:c.20789C>G (SYNE2) XP_016876590.1:p.Thr6930Ser
XM_017021102.1:c.20720C>G (SYNE2) XP_016876591.1:p.Thr6907Ser
XM_017021103.2:c.2729C>G (SYNE2) XP_016876592.1:p.Thr910Ser
XM_017021104.2:c.2726C>G (SYNE2) XP_016876593.1:p.Thr909Ser
NM_015180.5:c.20636C>G (SYNE2) NP_055995.4:p.Thr6879Ser
NM_182913.3:c.1649C>G (SYNE2) NP_878917.1:p.Thr550Ser
NM_015180.6:c.20636C>G (SYNE2) NP_055995.4:p.Thr6879Ser
NM_182913.4:c.1649C>G (SYNE2) NP_878917.1:p.Thr550Ser
NM_182914.3:c.20702C>G (SYNE2) MANE Select NP_878918.2:p.Thr6901Ser