Canonical Allele Identifier: CA1139663502
Community Standard Title: NM_182914.3(SYNE2):c.4398-11T>A
Gene: SYNE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64007032T>A , CM000676.2:g.64007032T>A GRCh38
NC_000014.8:g.64473750T>A , CM000676.1:g.64473750T>A GRCh37
NC_000014.7:g.63543503T>A NCBI36
NG_011756.1:g.159068T>A
NG_011756.2:g.250134T>A

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.4398-11T>A MANE Select NP_878918.2:n.4398-11T>A
ENST00000555002.6:c.4398-11T>A MANE Select ENSP00000450831.2:n.4398-11T>A
NM_015180.4:c.4398-11T>A NP_055995.4:n.4398-11T>A
NM_015180.5:c.4398-11T>A NP_055995.4:n.4398-11T>A
NM_015180.6:c.4398-11T>A NP_055995.4:n.4398-11T>A
NM_182914.2:c.4398-11T>A NP_878918.2:n.4398-11T>A
ENST00000344113.8:c.4398-11T>A ENSP00000341781.4:n.4398-11T>A
ENST00000357395.7:c.4398-11T>A ENSP00000349969.4:n.4398-11T>A
ENST00000358025.7:c.4398-11T>A ENSP00000350719.3:n.4398-11T>A
ENST00000554584.5:c.4398-11T>A ENSP00000452570.1:n.4398-11T>A
ENST00000557005.1:n.308-11T>A
ENST00000674144.1:c.*1313-11T>A ENSP00000501227.1:n.*1313-11T>A
XM_005267454.1:c.4398-11T>A XP_005267511.1:n.4398-11T>A
XM_005267456.1:c.4398-11T>A XP_005267513.1:n.4398-11T>A
XM_005267457.1:c.4398-11T>A XP_005267514.1:n.4398-11T>A
XM_005267458.1:c.4398-11T>A XP_005267515.1:n.4398-11T>A
XM_005267459.1:c.4398-11T>A XP_005267516.1:n.4398-11T>A
XM_006720084.2:c.4398-11T>A XP_006720147.1:n.4398-11T>A
XM_011536574.1:c.4398-11T>A XP_011534876.1:n.4398-11T>A
XM_011536575.1:c.4398-11T>A XP_011534877.1:n.4398-11T>A
XM_011536575.2:c.4398-11T>A XP_011534877.1:n.4398-11T>A
XM_011536576.1:c.4398-11T>A XP_011534878.1:n.4398-11T>A
XM_011536576.2:c.4398-11T>A XP_011534878.1:n.4398-11T>A
XM_011536577.1:c.4398-11T>A XP_011534879.1:n.4398-11T>A
XM_011536577.2:c.4398-11T>A XP_011534879.1:n.4398-11T>A
XM_011536578.1:c.4398-11T>A XP_011534880.1:n.4398-11T>A
XM_011536579.1:c.4398-11T>A XP_011534881.1:n.4398-11T>A
XM_011536580.1:c.4398-11T>A XP_011534882.1:n.4398-11T>A
XM_011536580.2:c.4398-11T>A XP_011534882.1:n.4398-11T>A
XM_011536581.1:c.4398-11T>A XP_011534883.1:n.4398-11T>A
XM_011536582.1:c.4398-11T>A XP_011534884.1:n.4398-11T>A
XM_011536583.1:c.1203-11T>A XP_011534885.1:n.1203-11T>A
XM_011536584.1:c.4398-11T>A XP_011534886.1:n.4398-11T>A
XM_011536584.2:c.4398-11T>A XP_011534886.1:n.4398-11T>A
XM_017021101.1:c.4398-11T>A XP_016876590.1:n.4398-11T>A
XM_017021102.1:c.4329-11T>A XP_016876591.1:n.4329-11T>A
XR_001750198.1:n.4628-11T>A