Canonical Allele Identifier: CA7224665
Community Standard Title: NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64220609G>C , CM000676.2:g.64220609G>C GRCh38
NC_000014.8:g.64687327G>C , CM000676.1:g.64687327G>C GRCh37
NC_000014.7:g.63757080G>C NCBI36
NG_011756.1:g.372645G>C
NG_011756.2:g.463711G>C

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.20033G>C (SYNE2) MANE Select NP_878918.2:p.Gly6678Ala
ENST00000555002.6:c.20033G>C (SYNE2) MANE Select ENSP00000450831.2:p.Gly6678Ala
NM_015180.4:c.19964G>C (SYNE2) NP_055995.4:p.Gly6655Ala
NM_015180.5:c.19964G>C (SYNE2) NP_055995.4:p.Gly6655Ala
NM_015180.6:c.19964G>C (SYNE2) NP_055995.4:p.Gly6655Ala
NM_182910.2:c.557G>C (SYNE2) NP_878914.1:p.Gly186Ala
NM_182913.2:c.935G>C (SYNE2) NP_878917.1:p.Gly312Ala
NM_182913.3:c.935G>C (SYNE2) NP_878917.1:p.Gly312Ala
NM_182913.4:c.935G>C (SYNE2) NP_878917.1:p.Gly312Ala
NM_182914.2:c.20033G>C (SYNE2) NP_878918.2:p.Gly6678Ala
ENST00000344113.8:c.19964G>C (SYNE2) ENSP00000341781.4:p.Gly6655Ala
ENST00000357395.7:c.19730G>C (SYNE2) ENSP00000349969.4:p.Gly6577Ala
ENST00000358025.7:c.20033G>C (SYNE2) ENSP00000350719.3:p.Gly6678Ala
ENST00000394768.6:c.9119G>C (SYNE2) ENSP00000378249.2:p.Gly3040Ala
ENST00000441438.2:c.557G>C (SYNE2) ENSP00000396794.2:p.Gly186Ala
ENST00000458046.6:c.935G>C (SYNE2) ENSP00000391937.2:p.Gly312Ala
ENST00000553289.5:c.*1839G>C (SYNE2) ENSP00000451184.1:n.*1839G>C
ENST00000554584.5:c.19712G>C (SYNE2) ENSP00000452570.1:p.Gly6571Ala
ENST00000554805.5:c.1313G>C (SYNE2) ENSP00000450605.1:p.Gly438Ala
ENST00000554805.6:n.1883G>C (SYNE2)
ENST00000554928.1:n.657G>C (SYNE2)
ENST00000555002.5:c.9935G>C (SYNE2) ENSP00000450831.1:p.Gly3312Ala
ENST00000555022.5:c.1598G>C (SYNE2) ENSP00000451009.1:p.Gly533Ala
ENST00000555612.5:c.*1743G>C (SYNE2) ENSP00000451972.1:n.*1743G>C
ENST00000556275.5:c.1406+14361C>G (ESR2) ENSP00000452485.2:n.1406+14361C>G
XM_005267454.1:c.20033G>C (SYNE2) XP_005267511.1:p.Gly6678Ala
XM_005267456.1:c.20033G>C (SYNE2) XP_005267513.1:p.Gly6678Ala
XM_005267457.1:c.20033G>C (SYNE2) XP_005267514.1:p.Gly6678Ala
XM_005267458.1:c.19964G>C (SYNE2) XP_005267515.1:p.Gly6655Ala
XM_005267459.1:c.19964G>C (SYNE2) XP_005267516.1:p.Gly6655Ala
XM_011536545.1:c.1406+14361C>G (ESR2) XP_011534847.1:n.1406+14361C>G
XM_011536574.1:c.20075G>C (SYNE2) XP_011534876.1:p.Gly6692Ala
XM_011536575.1:c.20075G>C (SYNE2) XP_011534877.1:p.Gly6692Ala
XM_011536575.2:c.20075G>C (SYNE2) XP_011534877.1:p.Gly6692Ala
XM_011536576.1:c.20075G>C (SYNE2) XP_011534878.1:p.Gly6692Ala
XM_011536576.2:c.20075G>C (SYNE2) XP_011534878.1:p.Gly6692Ala
XM_011536577.1:c.20075G>C (SYNE2) XP_011534879.1:p.Gly6692Ala
XM_011536577.2:c.20075G>C (SYNE2) XP_011534879.1:p.Gly6692Ala
XM_011536578.1:c.20075G>C (SYNE2) XP_011534880.1:p.Gly6692Ala
XM_011536579.1:c.20075G>C (SYNE2) XP_011534881.1:p.Gly6692Ala
XM_011536580.1:c.20075G>C (SYNE2) XP_011534882.1:p.Gly6692Ala
XM_011536580.2:c.20075G>C (SYNE2) XP_011534882.1:p.Gly6692Ala
XM_011536581.1:c.20006G>C (SYNE2) XP_011534883.1:p.Gly6669Ala
XM_011536582.1:c.19958G>C (SYNE2) XP_011534884.1:p.Gly6653Ala
XM_011536583.1:c.16880G>C (SYNE2) XP_011534885.1:p.Gly5627Ala
XM_017021101.1:c.20075G>C (SYNE2) XP_016876590.1:p.Gly6692Ala
XM_017021102.1:c.20006G>C (SYNE2) XP_016876591.1:p.Gly6669Ala
XM_017021103.2:c.2015G>C (SYNE2) XP_016876592.1:p.Gly672Ala
XM_017021104.2:c.2015G>C (SYNE2) XP_016876593.1:p.Gly672Ala