Canonical Allele Identifier: CA7221684

Gene: SYNE2

Linked Data

• ClinVar Variation Id: 283620
• ClinVar RCV Id: RCV000382859 ; RCV001082803
• dbSNP Id: rs112833938
• ExAC: 14:64545179 C / G
• gnomAD v2: 14-64545179-C-G
• gnomAD v3: 14-64078461-C-G
• gnomAD v4: 14-64078461-C-G
• MyVariant Identifiers: chr14:g.64545179C>G (hg19) ; chr14:g.64078461C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64078461C>G , CM000676.2:g.64078461C>G	GRCh38
NC_000014.8:g.64545179C>G , CM000676.1:g.64545179C>G	GRCh37
NC_000014.7:g.63614932C>G	NCBI36
NG_011756.1:g.230497C>G
NG_011756.2:g.321563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555002.6:c.11023-5C>G MANE Select	ENSP00000450831.2:n.11023-5C>G
ENST00000674144.1:c.*7938-5C>G	ENSP00000501227.1:n.*7938-5C>G
ENST00000344113.8:c.11023-5C>G	ENSP00000341781.4:n.11023-5C>G
ENST00000357395.7:c.11122-5C>G	ENSP00000349969.4:n.11122-5C>G
ENST00000358025.7:c.11023-5C>G	ENSP00000350719.3:n.11023-5C>G
ENST00000394768.6:c.109-5C>G	ENSP00000378249.2:n.109-5C>G
ENST00000554584.5:c.11122-5C>G	ENSP00000452570.1:n.11122-5C>G
ENST00000555002.5:c.925-5C>G	ENSP00000450831.1:n.925-5C>G
ENST00000557060.1:n.306-5C>G
NM_015180.4:c.11023-5C>G	NP_055995.4:n.11023-5C>G
NM_182914.2:c.11023-5C>G	NP_878918.2:n.11023-5C>G
XM_005267454.1:c.11023-5C>G	XP_005267511.1:n.11023-5C>G
XM_005267456.1:c.11023-5C>G	XP_005267513.1:n.11023-5C>G
XM_005267457.1:c.11023-5C>G	XP_005267514.1:n.11023-5C>G
XM_005267458.1:c.11023-5C>G	XP_005267515.1:n.11023-5C>G
XM_005267459.1:c.11023-5C>G	XP_005267516.1:n.11023-5C>G
XM_006720084.2:c.11023-5C>G	XP_006720147.1:n.11023-5C>G
XM_011536574.1:c.11023-5C>G	XP_011534876.1:n.11023-5C>G
XM_011536575.1:c.11023-5C>G	XP_011534877.1:n.11023-5C>G
XM_011536576.1:c.11023-5C>G	XP_011534878.1:n.11023-5C>G
XM_011536577.1:c.11023-5C>G	XP_011534879.1:n.11023-5C>G
XM_011536578.1:c.11023-5C>G	XP_011534880.1:n.11023-5C>G
XM_011536579.1:c.11023-5C>G	XP_011534881.1:n.11023-5C>G
XM_011536580.1:c.11023-5C>G	XP_011534882.1:n.11023-5C>G
XM_011536581.1:c.11023-5C>G	XP_011534883.1:n.11023-5C>G
XM_011536582.1:c.11023-5C>G	XP_011534884.1:n.11023-5C>G
XM_011536583.1:c.7828-5C>G	XP_011534885.1:n.7828-5C>G
XM_011536584.1:c.11023-5C>G	XP_011534886.1:n.11023-5C>G
XM_011536575.2:c.11023-5C>G	XP_011534877.1:n.11023-5C>G
XM_011536576.2:c.11023-5C>G	XP_011534878.1:n.11023-5C>G
XM_011536577.2:c.11023-5C>G	XP_011534879.1:n.11023-5C>G
XM_011536580.2:c.11023-5C>G	XP_011534882.1:n.11023-5C>G
XM_011536584.2:c.11023-5C>G	XP_011534886.1:n.11023-5C>G
XM_017021101.1:c.11023-5C>G	XP_016876590.1:n.11023-5C>G
XM_017021102.1:c.10954-5C>G	XP_016876591.1:n.10954-5C>G
XR_001750198.1:n.11253-5C>G
NM_015180.5:c.11023-5C>G	NP_055995.4:n.11023-5C>G
NM_015180.6:c.11023-5C>G	NP_055995.4:n.11023-5C>G
NM_182914.3:c.11023-5C>G MANE Select	NP_878918.2:n.11023-5C>G