Canonical Allele Identifier: CA389963132
Community Standard Title: NM_182914.3(SYNE2):c.16600T>C (p.Phe5534Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64165405T>C , CM000676.2:g.64165405T>C GRCh38
NC_000014.8:g.64632123T>C , CM000676.1:g.64632123T>C GRCh37
NC_000014.7:g.63701876T>C NCBI36
NG_011756.1:g.317441T>C
NG_011756.2:g.408507T>C

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.16600T>C (SYNE2) MANE Select NP_878918.2:p.Phe5534Leu
ENST00000555002.6:c.16600T>C (SYNE2) MANE Select ENSP00000450831.2:p.Phe5534Leu
NM_015180.4:c.16600T>C (SYNE2) NP_055995.4:p.Phe5534Leu
NM_015180.5:c.16600T>C (SYNE2) NP_055995.4:p.Phe5534Leu
NM_015180.6:c.16600T>C (SYNE2) NP_055995.4:p.Phe5534Leu
NM_182914.2:c.16600T>C (SYNE2) NP_878918.2:p.Phe5534Leu
ENST00000344113.8:c.16600T>C (SYNE2) ENSP00000341781.4:p.Phe5534Leu
ENST00000357395.7:c.16248+1824T>C (SYNE2) ENSP00000349969.4:n.16248+1824T>C
ENST00000358025.7:c.16600T>C (SYNE2) ENSP00000350719.3:p.Phe5534Leu
ENST00000394768.6:c.5755T>C (SYNE2) ENSP00000378249.2:p.Phe1919Leu
ENST00000553289.5:c.355T>C (SYNE2) ENSP00000451184.1:p.Phe119Leu
ENST00000554584.5:c.16230+1824T>C (SYNE2) ENSP00000452570.1:n.16230+1824T>C
ENST00000555002.5:c.6502T>C (SYNE2) ENSP00000450831.1:p.Phe2168Leu
ENST00000555612.5:c.1486T>C (SYNE2) ENSP00000451972.1:p.Phe496Leu
ENST00000556275.5:c.1406+69565A>G (ESR2) ENSP00000452485.2:n.1406+69565A>G
XM_005267454.1:c.16600T>C (SYNE2) XP_005267511.1:p.Phe5534Leu
XM_005267456.1:c.16600T>C (SYNE2) XP_005267513.1:p.Phe5534Leu
XM_005267457.1:c.16600T>C (SYNE2) XP_005267514.1:p.Phe5534Leu
XM_005267458.1:c.16600T>C (SYNE2) XP_005267515.1:p.Phe5534Leu
XM_005267459.1:c.16600T>C (SYNE2) XP_005267516.1:p.Phe5534Leu
XM_011536574.1:c.16600T>C (SYNE2) XP_011534876.1:p.Phe5534Leu
XM_011536575.1:c.16600T>C (SYNE2) XP_011534877.1:p.Phe5534Leu
XM_011536575.2:c.16600T>C (SYNE2) XP_011534877.1:p.Phe5534Leu
XM_011536576.1:c.16600T>C (SYNE2) XP_011534878.1:p.Phe5534Leu
XM_011536576.2:c.16600T>C (SYNE2) XP_011534878.1:p.Phe5534Leu
XM_011536577.1:c.16600T>C (SYNE2) XP_011534879.1:p.Phe5534Leu
XM_011536577.2:c.16600T>C (SYNE2) XP_011534879.1:p.Phe5534Leu
XM_011536578.1:c.16600T>C (SYNE2) XP_011534880.1:p.Phe5534Leu
XM_011536579.1:c.16600T>C (SYNE2) XP_011534881.1:p.Phe5534Leu
XM_011536580.1:c.16600T>C (SYNE2) XP_011534882.1:p.Phe5534Leu
XM_011536580.2:c.16600T>C (SYNE2) XP_011534882.1:p.Phe5534Leu
XM_011536581.1:c.16600T>C (SYNE2) XP_011534883.1:p.Phe5534Leu
XM_011536582.1:c.16483T>C (SYNE2) XP_011534884.1:p.Phe5495Leu
XM_011536583.1:c.13405T>C (SYNE2) XP_011534885.1:p.Phe4469Leu
XM_017021101.1:c.16600T>C (SYNE2) XP_016876590.1:p.Phe5534Leu
XM_017021102.1:c.16531T>C (SYNE2) XP_016876591.1:p.Phe5511Leu