Canonical Allele Identifier: CA7222848
Community Standard Title: NM_182914.3(SYNE2):c.14681G>A (p.Arg4894Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64137821G>A , CM000676.2:g.64137821G>A GRCh38
NC_000014.8:g.64604539G>A , CM000676.1:g.64604539G>A GRCh37
NC_000014.7:g.63674292G>A NCBI36
NG_011756.1:g.289857G>A
NG_011756.2:g.380923G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.14681G>A (SYNE2) MANE Select NP_878918.2:p.Arg4894Gln
ENST00000555002.6:c.14681G>A (SYNE2) MANE Select ENSP00000450831.2:p.Arg4894Gln
NM_015180.4:c.14681G>A (SYNE2) NP_055995.4:p.Arg4894Gln
NM_015180.5:c.14681G>A (SYNE2) NP_055995.4:p.Arg4894Gln
NM_015180.6:c.14681G>A (SYNE2) NP_055995.4:p.Arg4894Gln
NM_182914.2:c.14681G>A (SYNE2) NP_878918.2:p.Arg4894Gln
ENST00000344113.8:c.14681G>A (SYNE2) ENSP00000341781.4:p.Arg4894Gln
ENST00000357395.7:c.14432G>A (SYNE2) ENSP00000349969.4:p.Arg4811Gln
ENST00000358025.7:c.14681G>A (SYNE2) ENSP00000350719.3:p.Arg4894Gln
ENST00000394768.6:c.3836G>A (SYNE2) ENSP00000378249.2:p.Arg1279Gln
ENST00000554584.5:c.14432G>A (SYNE2) ENSP00000452570.1:p.Arg4811Gln
ENST00000555002.5:c.4583G>A (SYNE2) ENSP00000450831.1:p.Arg1528Gln
ENST00000556275.5:c.1407-52769C>T (ESR2) ENSP00000452485.2:n.1407-52769C>T
XM_005267454.1:c.14681G>A (SYNE2) XP_005267511.1:p.Arg4894Gln
XM_005267456.1:c.14681G>A (SYNE2) XP_005267513.1:p.Arg4894Gln
XM_005267457.1:c.14681G>A (SYNE2) XP_005267514.1:p.Arg4894Gln
XM_005267458.1:c.14681G>A (SYNE2) XP_005267515.1:p.Arg4894Gln
XM_005267459.1:c.14681G>A (SYNE2) XP_005267516.1:p.Arg4894Gln
XM_011536574.1:c.14681G>A (SYNE2) XP_011534876.1:p.Arg4894Gln
XM_011536575.1:c.14681G>A (SYNE2) XP_011534877.1:p.Arg4894Gln
XM_011536575.2:c.14681G>A (SYNE2) XP_011534877.1:p.Arg4894Gln
XM_011536576.1:c.14681G>A (SYNE2) XP_011534878.1:p.Arg4894Gln
XM_011536576.2:c.14681G>A (SYNE2) XP_011534878.1:p.Arg4894Gln
XM_011536577.1:c.14681G>A (SYNE2) XP_011534879.1:p.Arg4894Gln
XM_011536577.2:c.14681G>A (SYNE2) XP_011534879.1:p.Arg4894Gln
XM_011536578.1:c.14681G>A (SYNE2) XP_011534880.1:p.Arg4894Gln
XM_011536579.1:c.14681G>A (SYNE2) XP_011534881.1:p.Arg4894Gln
XM_011536580.1:c.14681G>A (SYNE2) XP_011534882.1:p.Arg4894Gln
XM_011536580.2:c.14681G>A (SYNE2) XP_011534882.1:p.Arg4894Gln
XM_011536581.1:c.14681G>A (SYNE2) XP_011534883.1:p.Arg4894Gln
XM_011536582.1:c.14564G>A (SYNE2) XP_011534884.1:p.Arg4855Gln
XM_011536583.1:c.11486G>A (SYNE2) XP_011534885.1:p.Arg3829Gln
XM_017021101.1:c.14681G>A (SYNE2) XP_016876590.1:p.Arg4894Gln
XM_017021102.1:c.14612G>A (SYNE2) XP_016876591.1:p.Arg4871Gln