Canonical Allele Identifier: CA7222272
Community Standard Title: NM_182914.3(SYNE2):c.12856A>C (p.Ile4286Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64119442A>C , CM000676.2:g.64119442A>C GRCh38
NC_000014.8:g.64586160A>C , CM000676.1:g.64586160A>C GRCh37
NC_000014.7:g.63655913A>C NCBI36
NG_011756.1:g.271478A>C
NG_011756.2:g.362544A>C

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.12856A>C (SYNE2) MANE Select NP_878918.2:p.Ile4286Leu
ENST00000555002.6:c.12856A>C (SYNE2) MANE Select ENSP00000450831.2:p.Ile4286Leu
NM_015180.4:c.12856A>C (SYNE2) NP_055995.4:p.Ile4286Leu
NM_015180.5:c.12856A>C (SYNE2) NP_055995.4:p.Ile4286Leu
NM_015180.6:c.12856A>C (SYNE2) NP_055995.4:p.Ile4286Leu
NM_182914.2:c.12856A>C (SYNE2) NP_878918.2:p.Ile4286Leu
ENST00000344113.8:c.12856A>C (SYNE2) ENSP00000341781.4:p.Ile4286Leu
ENST00000357395.7:c.12901A>C (SYNE2) ENSP00000349969.4:p.Ile4301Leu
ENST00000358025.7:c.12856A>C (SYNE2) ENSP00000350719.3:p.Ile4286Leu
ENST00000394768.6:c.2011A>C (SYNE2) ENSP00000378249.2:p.Ile671Leu
ENST00000553455.1:c.13A>C (SYNE2) ENSP00000452434.1:p.Ile5Leu
ENST00000554584.5:c.12901A>C (SYNE2) ENSP00000452570.1:p.Ile4301Leu
ENST00000555002.5:c.2758A>C (SYNE2) ENSP00000450831.1:p.Ile920Leu
ENST00000556275.5:c.1407-34390T>G (ESR2) ENSP00000452485.2:n.1407-34390T>G
ENST00000673797.1:c.259A>C (SYNE2) ENSP00000501238.1:p.Ile87Leu
ENST00000673869.1:c.259A>C (SYNE2) ENSP00000501077.1:p.Ile87Leu
XM_005267454.1:c.12856A>C (SYNE2) XP_005267511.1:p.Ile4286Leu
XM_005267456.1:c.12856A>C (SYNE2) XP_005267513.1:p.Ile4286Leu
XM_005267457.1:c.12856A>C (SYNE2) XP_005267514.1:p.Ile4286Leu
XM_005267458.1:c.12856A>C (SYNE2) XP_005267515.1:p.Ile4286Leu
XM_005267459.1:c.12856A>C (SYNE2) XP_005267516.1:p.Ile4286Leu
XM_006720084.2:c.12856A>C (SYNE2) XP_006720147.1:p.Ile4286Leu
XM_011536574.1:c.12856A>C (SYNE2) XP_011534876.1:p.Ile4286Leu
XM_011536575.1:c.12856A>C (SYNE2) XP_011534877.1:p.Ile4286Leu
XM_011536575.2:c.12856A>C (SYNE2) XP_011534877.1:p.Ile4286Leu
XM_011536576.1:c.12856A>C (SYNE2) XP_011534878.1:p.Ile4286Leu
XM_011536576.2:c.12856A>C (SYNE2) XP_011534878.1:p.Ile4286Leu
XM_011536577.1:c.12856A>C (SYNE2) XP_011534879.1:p.Ile4286Leu
XM_011536577.2:c.12856A>C (SYNE2) XP_011534879.1:p.Ile4286Leu
XM_011536578.1:c.12856A>C (SYNE2) XP_011534880.1:p.Ile4286Leu
XM_011536579.1:c.12856A>C (SYNE2) XP_011534881.1:p.Ile4286Leu
XM_011536580.1:c.12856A>C (SYNE2) XP_011534882.1:p.Ile4286Leu
XM_011536580.2:c.12856A>C (SYNE2) XP_011534882.1:p.Ile4286Leu
XM_011536581.1:c.12856A>C (SYNE2) XP_011534883.1:p.Ile4286Leu
XM_011536582.1:c.12739A>C (SYNE2) XP_011534884.1:p.Ile4247Leu
XM_011536583.1:c.9661A>C (SYNE2) XP_011534885.1:p.Ile3221Leu
XM_017021101.1:c.12856A>C (SYNE2) XP_016876590.1:p.Ile4286Leu
XM_017021102.1:c.12787A>C (SYNE2) XP_016876591.1:p.Ile4263Leu
XR_001750198.1:n.13086A>C (SYNE2)