Canonical Allele Identifier: CA7222381
Community Standard Title: NM_182914.3(SYNE2):c.13256A>G (p.Asp4419Gly)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64122109A>G , CM000676.2:g.64122109A>G GRCh38
NC_000014.8:g.64588827A>G , CM000676.1:g.64588827A>G GRCh37
NC_000014.7:g.63658580A>G NCBI36
NG_011756.1:g.274145A>G
NG_011756.2:g.365211A>G

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.13256A>G (SYNE2) MANE Select NP_878918.2:p.Asp4419Gly
ENST00000555002.6:c.13256A>G (SYNE2) MANE Select ENSP00000450831.2:p.Asp4419Gly
NM_015180.4:c.13256A>G (SYNE2) NP_055995.4:p.Asp4419Gly
NM_015180.5:c.13256A>G (SYNE2) NP_055995.4:p.Asp4419Gly
NM_015180.6:c.13256A>G (SYNE2) NP_055995.4:p.Asp4419Gly
NM_182914.2:c.13256A>G (SYNE2) NP_878918.2:p.Asp4419Gly
ENST00000344113.8:c.13256A>G (SYNE2) ENSP00000341781.4:p.Asp4419Gly
ENST00000357395.7:c.13301A>G (SYNE2) ENSP00000349969.4:p.Asp4434Gly
ENST00000358025.7:c.13256A>G (SYNE2) ENSP00000350719.3:p.Asp4419Gly
ENST00000394768.6:c.2411A>G (SYNE2) ENSP00000378249.2:p.Asp804Gly
ENST00000553455.1:c.413A>G (SYNE2) ENSP00000452434.1:p.Asp138Gly
ENST00000554584.5:c.13301A>G (SYNE2) ENSP00000452570.1:p.Asp4434Gly
ENST00000555002.5:c.3158A>G (SYNE2) ENSP00000450831.1:p.Asp1053Gly
ENST00000556275.5:c.1407-37057T>C (ESR2) ENSP00000452485.2:n.1407-37057T>C
ENST00000673797.1:c.659A>G (SYNE2) ENSP00000501238.1:p.Asp220Gly
ENST00000673869.1:c.524A>G (SYNE2) ENSP00000501077.1:p.Asp175Gly
XM_005267454.1:c.13256A>G (SYNE2) XP_005267511.1:p.Asp4419Gly
XM_005267456.1:c.13256A>G (SYNE2) XP_005267513.1:p.Asp4419Gly
XM_005267457.1:c.13256A>G (SYNE2) XP_005267514.1:p.Asp4419Gly
XM_005267458.1:c.13256A>G (SYNE2) XP_005267515.1:p.Asp4419Gly
XM_005267459.1:c.13256A>G (SYNE2) XP_005267516.1:p.Asp4419Gly
XM_006720084.2:c.13256A>G (SYNE2) XP_006720147.1:p.Asp4419Gly
XM_011536574.1:c.13256A>G (SYNE2) XP_011534876.1:p.Asp4419Gly
XM_011536575.1:c.13256A>G (SYNE2) XP_011534877.1:p.Asp4419Gly
XM_011536575.2:c.13256A>G (SYNE2) XP_011534877.1:p.Asp4419Gly
XM_011536576.1:c.13256A>G (SYNE2) XP_011534878.1:p.Asp4419Gly
XM_011536576.2:c.13256A>G (SYNE2) XP_011534878.1:p.Asp4419Gly
XM_011536577.1:c.13256A>G (SYNE2) XP_011534879.1:p.Asp4419Gly
XM_011536577.2:c.13256A>G (SYNE2) XP_011534879.1:p.Asp4419Gly
XM_011536578.1:c.13256A>G (SYNE2) XP_011534880.1:p.Asp4419Gly
XM_011536579.1:c.13256A>G (SYNE2) XP_011534881.1:p.Asp4419Gly
XM_011536580.1:c.13256A>G (SYNE2) XP_011534882.1:p.Asp4419Gly
XM_011536580.2:c.13256A>G (SYNE2) XP_011534882.1:p.Asp4419Gly
XM_011536581.1:c.13256A>G (SYNE2) XP_011534883.1:p.Asp4419Gly
XM_011536582.1:c.13139A>G (SYNE2) XP_011534884.1:p.Asp4380Gly
XM_011536583.1:c.10061A>G (SYNE2) XP_011534885.1:p.Asp3354Gly
XM_017021101.1:c.13256A>G (SYNE2) XP_016876590.1:p.Asp4419Gly
XM_017021102.1:c.13187A>G (SYNE2) XP_016876591.1:p.Asp4396Gly
XR_001750198.1:n.13486A>G (SYNE2)