Canonical Allele Identifier: CA7222192
Community Standard Title: NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64107558A>T , CM000676.2:g.64107558A>T GRCh38
NC_000014.8:g.64574276A>T , CM000676.1:g.64574276A>T GRCh37
NC_000014.7:g.63644029A>T NCBI36
NG_011756.1:g.259594A>T
NG_011756.2:g.350660A>T

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.12560A>T (SYNE2) MANE Select NP_878918.2:p.Asn4187Ile
ENST00000555002.6:c.12560A>T (SYNE2) MANE Select ENSP00000450831.2:p.Asn4187Ile
NM_015180.4:c.12560A>T (SYNE2) NP_055995.4:p.Asn4187Ile
NM_015180.5:c.12560A>T (SYNE2) NP_055995.4:p.Asn4187Ile
NM_015180.6:c.12560A>T (SYNE2) NP_055995.4:p.Asn4187Ile
NM_182914.2:c.12560A>T (SYNE2) NP_878918.2:p.Asn4187Ile
ENST00000344113.8:c.12560A>T (SYNE2) ENSP00000341781.4:p.Asn4187Ile
ENST00000357395.7:c.12605A>T (SYNE2) ENSP00000349969.4:p.Asn4202Ile
ENST00000358025.7:c.12560A>T (SYNE2) ENSP00000350719.3:p.Asn4187Ile
ENST00000394768.6:c.1715A>T (SYNE2) ENSP00000378249.2:p.Asn572Ile
ENST00000553308.1:c.236A>T (SYNE2) ENSP00000451520.1:p.Asn79Ile
ENST00000554584.5:c.12605A>T (SYNE2) ENSP00000452570.1:p.Asn4202Ile
ENST00000555002.5:c.2462A>T (SYNE2) ENSP00000450831.1:p.Asn821Ile
ENST00000556275.5:c.1407-22506T>A (ESR2) ENSP00000452485.2:n.1407-22506T>A
XM_005267454.1:c.12560A>T (SYNE2) XP_005267511.1:p.Asn4187Ile
XM_005267456.1:c.12560A>T (SYNE2) XP_005267513.1:p.Asn4187Ile
XM_005267457.1:c.12560A>T (SYNE2) XP_005267514.1:p.Asn4187Ile
XM_005267458.1:c.12560A>T (SYNE2) XP_005267515.1:p.Asn4187Ile
XM_005267459.1:c.12560A>T (SYNE2) XP_005267516.1:p.Asn4187Ile
XM_006720084.2:c.12560A>T (SYNE2) XP_006720147.1:p.Asn4187Ile
XM_011536574.1:c.12560A>T (SYNE2) XP_011534876.1:p.Asn4187Ile
XM_011536575.1:c.12560A>T (SYNE2) XP_011534877.1:p.Asn4187Ile
XM_011536575.2:c.12560A>T (SYNE2) XP_011534877.1:p.Asn4187Ile
XM_011536576.1:c.12560A>T (SYNE2) XP_011534878.1:p.Asn4187Ile
XM_011536576.2:c.12560A>T (SYNE2) XP_011534878.1:p.Asn4187Ile
XM_011536577.1:c.12560A>T (SYNE2) XP_011534879.1:p.Asn4187Ile
XM_011536577.2:c.12560A>T (SYNE2) XP_011534879.1:p.Asn4187Ile
XM_011536578.1:c.12560A>T (SYNE2) XP_011534880.1:p.Asn4187Ile
XM_011536579.1:c.12560A>T (SYNE2) XP_011534881.1:p.Asn4187Ile
XM_011536580.1:c.12560A>T (SYNE2) XP_011534882.1:p.Asn4187Ile
XM_011536580.2:c.12560A>T (SYNE2) XP_011534882.1:p.Asn4187Ile
XM_011536581.1:c.12560A>T (SYNE2) XP_011534883.1:p.Asn4187Ile
XM_011536582.1:c.12492+5516A>T (SYNE2) XP_011534884.1:n.12492+5516A>T
XM_011536583.1:c.9365A>T (SYNE2) XP_011534885.1:p.Asn3122Ile
XM_017021101.1:c.12560A>T (SYNE2) XP_016876590.1:p.Asn4187Ile
XM_017021102.1:c.12491A>T (SYNE2) XP_016876591.1:p.Asn4164Ile
XR_001750198.1:n.12790A>T (SYNE2)