Canonical Allele Identifier: CA389942984

Gene: SYNE2

Linked Data

• MyVariant Identifiers: chr14:g.64548293G>T (hg19) ; chr14:g.64081575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64081575G>T , CM000676.2:g.64081575G>T	GRCh38
NC_000014.8:g.64548293G>T , CM000676.1:g.64548293G>T	GRCh37
NC_000014.7:g.63618046G>T	NCBI36
NG_011756.1:g.233611G>T
NG_011756.2:g.324677G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555002.6:c.11479G>T MANE Select	ENSP00000450831.2:p.Val3827Leu
ENST00000674144.1:c.*8394G>T	ENSP00000501227.1:n.*8394G>T
ENST00000344113.8:c.11479G>T	ENSP00000341781.4:p.Val3827Leu
ENST00000357395.7:c.11578G>T	ENSP00000349969.4:p.Val3860Leu
ENST00000358025.7:c.11479G>T	ENSP00000350719.3:p.Val3827Leu
ENST00000394768.6:c.565G>T	ENSP00000378249.2:p.Val189Leu
ENST00000554584.5:c.11578G>T	ENSP00000452570.1:p.Val3860Leu
ENST00000555002.5:c.1381G>T	ENSP00000450831.1:p.Val461Leu
ENST00000557060.1:n.762G>T
NM_015180.4:c.11479G>T	NP_055995.4:p.Val3827Leu
NM_182914.2:c.11479G>T	NP_878918.2:p.Val3827Leu
XM_005267454.1:c.11479G>T	XP_005267511.1:p.Val3827Leu
XM_005267456.1:c.11479G>T	XP_005267513.1:p.Val3827Leu
XM_005267457.1:c.11479G>T	XP_005267514.1:p.Val3827Leu
XM_005267458.1:c.11479G>T	XP_005267515.1:p.Val3827Leu
XM_005267459.1:c.11479G>T	XP_005267516.1:p.Val3827Leu
XM_006720084.2:c.11479G>T	XP_006720147.1:p.Val3827Leu
XM_011536574.1:c.11479G>T	XP_011534876.1:p.Val3827Leu
XM_011536575.1:c.11479G>T	XP_011534877.1:p.Val3827Leu
XM_011536576.1:c.11479G>T	XP_011534878.1:p.Val3827Leu
XM_011536577.1:c.11479G>T	XP_011534879.1:p.Val3827Leu
XM_011536578.1:c.11479G>T	XP_011534880.1:p.Val3827Leu
XM_011536579.1:c.11479G>T	XP_011534881.1:p.Val3827Leu
XM_011536580.1:c.11479G>T	XP_011534882.1:p.Val3827Leu
XM_011536581.1:c.11479G>T	XP_011534883.1:p.Val3827Leu
XM_011536582.1:c.11479G>T	XP_011534884.1:p.Val3827Leu
XM_011536583.1:c.8284G>T	XP_011534885.1:p.Val2762Leu
XM_011536584.1:c.11479G>T	XP_011534886.1:p.Val3827Leu
XM_011536575.2:c.11479G>T	XP_011534877.1:p.Val3827Leu
XM_011536576.2:c.11479G>T	XP_011534878.1:p.Val3827Leu
XM_011536577.2:c.11479G>T	XP_011534879.1:p.Val3827Leu
XM_011536580.2:c.11479G>T	XP_011534882.1:p.Val3827Leu
XM_011536584.2:c.11479G>T	XP_011534886.1:p.Val3827Leu
XM_017021101.1:c.11479G>T	XP_016876590.1:p.Val3827Leu
XM_017021102.1:c.11410G>T	XP_016876591.1:p.Val3804Leu
XR_001750198.1:n.11709G>T
NM_015180.5:c.11479G>T	NP_055995.4:p.Val3827Leu
NM_015180.6:c.11479G>T	NP_055995.4:p.Val3827Leu
NM_182914.3:c.11479G>T MANE Select	NP_878918.2:p.Val3827Leu