Canonical Allele Identifier: CA7224364
Community Standard Title: NM_182914.3(SYNE2):c.19275G>T (p.Val6425=)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64214412G>T , CM000676.2:g.64214412G>T GRCh38
NC_000014.8:g.64681130G>T , CM000676.1:g.64681130G>T GRCh37
NC_000014.7:g.63750883G>T NCBI36
NG_011756.1:g.366448G>T
NG_011756.2:g.457514G>T

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.19275G>T (SYNE2) MANE Select NP_878918.2:p.Val6425=
ENST00000555002.6:c.19275G>T (SYNE2) MANE Select ENSP00000450831.2:p.Val6425=
NM_015180.4:c.19275G>T (SYNE2) NP_055995.4:p.Val6425=
NM_015180.5:c.19275G>T (SYNE2) NP_055995.4:p.Val6425=
NM_015180.6:c.19275G>T (SYNE2) NP_055995.4:p.Val6425=
NM_182913.2:c.177G>T (SYNE2) NP_878917.1:p.Val59=
NM_182913.3:c.177G>T (SYNE2) NP_878917.1:p.Val59=
NM_182913.4:c.177G>T (SYNE2) NP_878917.1:p.Val59=
NM_182914.2:c.19275G>T (SYNE2) NP_878918.2:p.Val6425=
ENST00000344113.8:c.19275G>T (SYNE2) ENSP00000341781.4:p.Val6425=
ENST00000357395.7:c.19119G>T (SYNE2) ENSP00000349969.4:p.Val6373=
ENST00000358025.7:c.19275G>T (SYNE2) ENSP00000350719.3:p.Val6425=
ENST00000394768.6:c.8430G>T (SYNE2) ENSP00000378249.2:p.Val2810=
ENST00000458046.6:c.177G>T (SYNE2) ENSP00000391937.2:p.Val59=
ENST00000553289.5:c.*1150G>T (SYNE2) ENSP00000451184.1:n.*1150G>T
ENST00000554584.5:c.19101G>T (SYNE2) ENSP00000452570.1:p.Val6367=
ENST00000554805.5:c.624G>T (SYNE2) ENSP00000450605.1:p.Val208=
ENST00000554805.6:n.1194G>T (SYNE2)
ENST00000555002.5:c.9177G>T (SYNE2) ENSP00000450831.1:p.Val3059=
ENST00000555022.5:c.909G>T (SYNE2) ENSP00000451009.1:p.Val303=
ENST00000555612.5:c.*1054G>T (SYNE2) ENSP00000451972.1:n.*1054G>T
ENST00000556275.5:c.1406+20558C>A (ESR2) ENSP00000452485.2:n.1406+20558C>A
ENST00000557084.1:c.*86G>T (SYNE2) ENSP00000450789.1:n.*86G>T
ENST00000557307.1:n.414G>T (SYNE2)
XM_005267454.1:c.19275G>T (SYNE2) XP_005267511.1:p.Val6425=
XM_005267456.1:c.19275G>T (SYNE2) XP_005267513.1:p.Val6425=
XM_005267457.1:c.19275G>T (SYNE2) XP_005267514.1:p.Val6425=
XM_005267458.1:c.19275G>T (SYNE2) XP_005267515.1:p.Val6425=
XM_005267459.1:c.19275G>T (SYNE2) XP_005267516.1:p.Val6425=
XM_011536545.1:c.1406+20558C>A (ESR2) XP_011534847.1:n.1406+20558C>A
XM_011536574.1:c.19275G>T (SYNE2) XP_011534876.1:p.Val6425=
XM_011536575.1:c.19275G>T (SYNE2) XP_011534877.1:p.Val6425=
XM_011536575.2:c.19275G>T (SYNE2) XP_011534877.1:p.Val6425=
XM_011536576.1:c.19275G>T (SYNE2) XP_011534878.1:p.Val6425=
XM_011536576.2:c.19275G>T (SYNE2) XP_011534878.1:p.Val6425=
XM_011536577.1:c.19275G>T (SYNE2) XP_011534879.1:p.Val6425=
XM_011536577.2:c.19275G>T (SYNE2) XP_011534879.1:p.Val6425=
XM_011536578.1:c.19275G>T (SYNE2) XP_011534880.1:p.Val6425=
XM_011536579.1:c.19275G>T (SYNE2) XP_011534881.1:p.Val6425=
XM_011536580.1:c.19275G>T (SYNE2) XP_011534882.1:p.Val6425=
XM_011536580.2:c.19275G>T (SYNE2) XP_011534882.1:p.Val6425=
XM_011536581.1:c.19275G>T (SYNE2) XP_011534883.1:p.Val6425=
XM_011536582.1:c.19158G>T (SYNE2) XP_011534884.1:p.Val6386=
XM_011536583.1:c.16080G>T (SYNE2) XP_011534885.1:p.Val5360=
XM_017021101.1:c.19275G>T (SYNE2) XP_016876590.1:p.Val6425=
XM_017021102.1:c.19206G>T (SYNE2) XP_016876591.1:p.Val6402=
XM_017021103.2:c.1257G>T (SYNE2) XP_016876592.1:p.Val419=
XM_017021104.2:c.1257G>T (SYNE2) XP_016876593.1:p.Val419=