Canonical Allele Identifier: CA486960918

Linked Data

MyVariant Identifiers: chr14:g.64596852T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64130134T>G , CM000676.2:g.64130134T>G GRCh38
NC_000014.8:g.64596852T>G , CM000676.1:g.64596852T>G GRCh37
NC_000014.7:g.63666605T>G NCBI36
NG_011756.1:g.282170T>G
NG_011756.2:g.373236T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555002.6:c.14226T>G (SYNE2) MANE Select ENSP00000450831.2:p.Ala4742=
ENST00000673797.1:c.1629T>G (SYNE2) ENSP00000501238.1:p.Ala543=
ENST00000344113.8:c.14226T>G (SYNE2) ENSP00000341781.4:p.Ala4742=
ENST00000357395.7:c.13977T>G (SYNE2) ENSP00000349969.4:p.Ala4659=
ENST00000358025.7:c.14226T>G (SYNE2) ENSP00000350719.3:p.Ala4742=
ENST00000394768.6:c.3381T>G (SYNE2) ENSP00000378249.2:p.Ala1127=
ENST00000554584.5:c.13977T>G (SYNE2) ENSP00000452570.1:p.Ala4659=
ENST00000555002.5:c.4128T>G (SYNE2) ENSP00000450831.1:p.Ala1376=
ENST00000556275.5:c.1407-45082A>C (ESR2) ENSP00000452485.2:n.1407-45082A>C
NM_015180.4:c.14226T>G (SYNE2) NP_055995.4:p.Ala4742=
NM_182914.2:c.14226T>G (SYNE2) NP_878918.2:p.Ala4742=
XM_005267454.1:c.14226T>G (SYNE2) XP_005267511.1:p.Ala4742=
XM_005267456.1:c.14226T>G (SYNE2) XP_005267513.1:p.Ala4742=
XM_005267457.1:c.14226T>G (SYNE2) XP_005267514.1:p.Ala4742=
XM_005267458.1:c.14226T>G (SYNE2) XP_005267515.1:p.Ala4742=
XM_005267459.1:c.14226T>G (SYNE2) XP_005267516.1:p.Ala4742=
XM_006720084.2:c.14226T>G (SYNE2) XP_006720147.1:p.Ala4742=
XM_011536574.1:c.14226T>G (SYNE2) XP_011534876.1:p.Ala4742=
XM_011536575.1:c.14226T>G (SYNE2) XP_011534877.1:p.Ala4742=
XM_011536576.1:c.14226T>G (SYNE2) XP_011534878.1:p.Ala4742=
XM_011536577.1:c.14226T>G (SYNE2) XP_011534879.1:p.Ala4742=
XM_011536578.1:c.14226T>G (SYNE2) XP_011534880.1:p.Ala4742=
XM_011536579.1:c.14226T>G (SYNE2) XP_011534881.1:p.Ala4742=
XM_011536580.1:c.14226T>G (SYNE2) XP_011534882.1:p.Ala4742=
XM_011536581.1:c.14226T>G (SYNE2) XP_011534883.1:p.Ala4742=
XM_011536582.1:c.14109T>G (SYNE2) XP_011534884.1:p.Ala4703=
XM_011536583.1:c.11031T>G (SYNE2) XP_011534885.1:p.Ala3677=
XM_011536575.2:c.14226T>G (SYNE2) XP_011534877.1:p.Ala4742=
XM_011536576.2:c.14226T>G (SYNE2) XP_011534878.1:p.Ala4742=
XM_011536577.2:c.14226T>G (SYNE2) XP_011534879.1:p.Ala4742=
XM_011536580.2:c.14226T>G (SYNE2) XP_011534882.1:p.Ala4742=
XM_017021101.1:c.14226T>G (SYNE2) XP_016876590.1:p.Ala4742=
XM_017021102.1:c.14157T>G (SYNE2) XP_016876591.1:p.Ala4719=
XR_001750198.1:n.14456T>G (SYNE2)
NM_015180.5:c.14226T>G (SYNE2) NP_055995.4:p.Ala4742=
NM_015180.6:c.14226T>G (SYNE2) NP_055995.4:p.Ala4742=
NM_182914.3:c.14226T>G (SYNE2) MANE Select NP_878918.2:p.Ala4742=