Canonical Allele Identifier: CA389979780

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64130141C>G , CM000676.2:g.64130141C>G GRCh38
NC_000014.8:g.64596859C>G , CM000676.1:g.64596859C>G GRCh37
NC_000014.7:g.63666612C>G NCBI36
NG_011756.1:g.282177C>G
NG_011756.2:g.373243C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000555002.6:c.14233C>G (SYNE2) MANE Select ENSP00000450831.2:p.Gln4745Glu
ENST00000673797.1:c.1636C>G (SYNE2) ENSP00000501238.1:p.Gln546Glu
ENST00000344113.8:c.14233C>G (SYNE2) ENSP00000341781.4:p.Gln4745Glu
ENST00000357395.7:c.13984C>G (SYNE2) ENSP00000349969.4:p.Gln4662Glu
ENST00000358025.7:c.14233C>G (SYNE2) ENSP00000350719.3:p.Gln4745Glu
ENST00000394768.6:c.3388C>G (SYNE2) ENSP00000378249.2:p.Gln1130Glu
ENST00000554584.5:c.13984C>G (SYNE2) ENSP00000452570.1:p.Gln4662Glu
ENST00000555002.5:c.4135C>G (SYNE2) ENSP00000450831.1:p.Gln1379Glu
ENST00000556275.5:c.1407-45089G>C (ESR2) ENSP00000452485.2:n.1407-45089G>C
NM_015180.4:c.14233C>G (SYNE2) NP_055995.4:p.Gln4745Glu
NM_182914.2:c.14233C>G (SYNE2) NP_878918.2:p.Gln4745Glu
XM_005267454.1:c.14233C>G (SYNE2) XP_005267511.1:p.Gln4745Glu
XM_005267456.1:c.14233C>G (SYNE2) XP_005267513.1:p.Gln4745Glu
XM_005267457.1:c.14233C>G (SYNE2) XP_005267514.1:p.Gln4745Glu
XM_005267458.1:c.14233C>G (SYNE2) XP_005267515.1:p.Gln4745Glu
XM_005267459.1:c.14233C>G (SYNE2) XP_005267516.1:p.Gln4745Glu
XM_006720084.2:c.14233C>G (SYNE2) XP_006720147.1:p.Gln4745Glu
XM_011536574.1:c.14233C>G (SYNE2) XP_011534876.1:p.Gln4745Glu
XM_011536575.1:c.14233C>G (SYNE2) XP_011534877.1:p.Gln4745Glu
XM_011536576.1:c.14233C>G (SYNE2) XP_011534878.1:p.Gln4745Glu
XM_011536577.1:c.14233C>G (SYNE2) XP_011534879.1:p.Gln4745Glu
XM_011536578.1:c.14233C>G (SYNE2) XP_011534880.1:p.Gln4745Glu
XM_011536579.1:c.14233C>G (SYNE2) XP_011534881.1:p.Gln4745Glu
XM_011536580.1:c.14233C>G (SYNE2) XP_011534882.1:p.Gln4745Glu
XM_011536581.1:c.14233C>G (SYNE2) XP_011534883.1:p.Gln4745Glu
XM_011536582.1:c.14116C>G (SYNE2) XP_011534884.1:p.Gln4706Glu
XM_011536583.1:c.11038C>G (SYNE2) XP_011534885.1:p.Gln3680Glu
XM_011536575.2:c.14233C>G (SYNE2) XP_011534877.1:p.Gln4745Glu
XM_011536576.2:c.14233C>G (SYNE2) XP_011534878.1:p.Gln4745Glu
XM_011536577.2:c.14233C>G (SYNE2) XP_011534879.1:p.Gln4745Glu
XM_011536580.2:c.14233C>G (SYNE2) XP_011534882.1:p.Gln4745Glu
XM_017021101.1:c.14233C>G (SYNE2) XP_016876590.1:p.Gln4745Glu
XM_017021102.1:c.14164C>G (SYNE2) XP_016876591.1:p.Gln4722Glu
XR_001750198.1:n.14463C>G (SYNE2)
NM_015180.5:c.14233C>G (SYNE2) NP_055995.4:p.Gln4745Glu
NM_015180.6:c.14233C>G (SYNE2) NP_055995.4:p.Gln4745Glu
NM_182914.3:c.14233C>G (SYNE2) MANE Select NP_878918.2:p.Gln4745Glu