Canonical Allele Identifier: CA7222091
Community Standard Title: NM_182914.3(SYNE2):c.12346G>A (p.Glu4116Lys)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64098786G>A , CM000676.2:g.64098786G>A GRCh38
NC_000014.8:g.64565504G>A , CM000676.1:g.64565504G>A GRCh37
NC_000014.7:g.63635257G>A NCBI36
NG_011756.1:g.250822G>A
NG_011756.2:g.341888G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.12346G>A (SYNE2) MANE Select NP_878918.2:p.Glu4116Lys
ENST00000555002.6:c.12346G>A (SYNE2) MANE Select ENSP00000450831.2:p.Glu4116Lys
NM_015180.4:c.12346G>A (SYNE2) NP_055995.4:p.Glu4116Lys
NM_015180.5:c.12346G>A (SYNE2) NP_055995.4:p.Glu4116Lys
NM_015180.6:c.12346G>A (SYNE2) NP_055995.4:p.Glu4116Lys
NM_182914.2:c.12346G>A (SYNE2) NP_878918.2:p.Glu4116Lys
ENST00000344113.8:c.12346G>A (SYNE2) ENSP00000341781.4:p.Glu4116Lys
ENST00000357395.7:c.12445G>A (SYNE2) ENSP00000349969.4:p.Glu4149Lys
ENST00000358025.7:c.12346G>A (SYNE2) ENSP00000350719.3:p.Glu4116Lys
ENST00000394768.6:c.1501G>A (SYNE2) ENSP00000378249.2:p.Glu501Lys
ENST00000553308.1:c.22G>A (SYNE2) ENSP00000451520.1:p.Glu8Lys
ENST00000554584.5:c.12445G>A (SYNE2) ENSP00000452570.1:p.Glu4149Lys
ENST00000555002.5:c.2248G>A (SYNE2) ENSP00000450831.1:p.Glu750Lys
ENST00000555323.1:n.242G>A (SYNE2)
ENST00000556275.5:c.1407-13734C>T (ESR2) ENSP00000452485.2:n.1407-13734C>T
ENST00000557060.1:n.1629G>A (SYNE2)
XM_005267454.1:c.12346G>A (SYNE2) XP_005267511.1:p.Glu4116Lys
XM_005267456.1:c.12346G>A (SYNE2) XP_005267513.1:p.Glu4116Lys
XM_005267457.1:c.12346G>A (SYNE2) XP_005267514.1:p.Glu4116Lys
XM_005267458.1:c.12346G>A (SYNE2) XP_005267515.1:p.Glu4116Lys
XM_005267459.1:c.12346G>A (SYNE2) XP_005267516.1:p.Glu4116Lys
XM_006720084.2:c.12346G>A (SYNE2) XP_006720147.1:p.Glu4116Lys
XM_011536574.1:c.12346G>A (SYNE2) XP_011534876.1:p.Glu4116Lys
XM_011536575.1:c.12346G>A (SYNE2) XP_011534877.1:p.Glu4116Lys
XM_011536575.2:c.12346G>A (SYNE2) XP_011534877.1:p.Glu4116Lys
XM_011536576.1:c.12346G>A (SYNE2) XP_011534878.1:p.Glu4116Lys
XM_011536576.2:c.12346G>A (SYNE2) XP_011534878.1:p.Glu4116Lys
XM_011536577.1:c.12346G>A (SYNE2) XP_011534879.1:p.Glu4116Lys
XM_011536577.2:c.12346G>A (SYNE2) XP_011534879.1:p.Glu4116Lys
XM_011536578.1:c.12346G>A (SYNE2) XP_011534880.1:p.Glu4116Lys
XM_011536579.1:c.12346G>A (SYNE2) XP_011534881.1:p.Glu4116Lys
XM_011536580.1:c.12346G>A (SYNE2) XP_011534882.1:p.Glu4116Lys
XM_011536580.2:c.12346G>A (SYNE2) XP_011534882.1:p.Glu4116Lys
XM_011536581.1:c.12346G>A (SYNE2) XP_011534883.1:p.Glu4116Lys
XM_011536582.1:c.12346G>A (SYNE2) XP_011534884.1:p.Glu4116Lys
XM_011536583.1:c.9151G>A (SYNE2) XP_011534885.1:p.Glu3051Lys
XM_017021101.1:c.12346G>A (SYNE2) XP_016876590.1:p.Glu4116Lys
XM_017021102.1:c.12277G>A (SYNE2) XP_016876591.1:p.Glu4093Lys
XR_001750198.1:n.12576G>A (SYNE2)