Canonical Allele Identifier: CA7219714
Gene: SYNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 313495
ClinVar RCV Id: RCV000794724
dbSNP Id: rs372150492

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.63990946A>G , CM000676.2:g.63990946A>G GRCh38
NC_000014.8:g.64457664A>G , CM000676.1:g.64457664A>G GRCh37
NC_000014.7:g.63527417A>G NCBI36
NG_011756.1:g.142982A>G
NG_011756.2:g.234048A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555002.6:c.2477A>G MANE Select ENSP00000450831.2:p.Asn826Ser
ENST00000674003.1:c.2477A>G ENSP00000501132.1:p.Asn826Ser
ENST00000674144.1:c.2477A>G ENSP00000501227.1:p.Asn826Ser
ENST00000344113.8:c.2477A>G ENSP00000341781.4:p.Asn826Ser
ENST00000357395.7:c.2477A>G ENSP00000349969.4:p.Asn826Ser
ENST00000358025.7:c.2477A>G ENSP00000350719.3:p.Asn826Ser
ENST00000554584.5:c.2477A>G ENSP00000452570.1:p.Asn826Ser
NM_015180.4:c.2477A>G NP_055995.4:p.Asn826Ser
NM_182914.2:c.2477A>G NP_878918.2:p.Asn826Ser
XM_005267454.1:c.2477A>G XP_005267511.1:p.Asn826Ser
XM_005267456.1:c.2477A>G XP_005267513.1:p.Asn826Ser
XM_005267457.1:c.2477A>G XP_005267514.1:p.Asn826Ser
XM_005267458.1:c.2477A>G XP_005267515.1:p.Asn826Ser
XM_005267459.1:c.2477A>G XP_005267516.1:p.Asn826Ser
XM_006720084.2:c.2477A>G XP_006720147.1:p.Asn826Ser
XM_011536574.1:c.2477A>G XP_011534876.1:p.Asn826Ser
XM_011536575.1:c.2477A>G XP_011534877.1:p.Asn826Ser
XM_011536576.1:c.2477A>G XP_011534878.1:p.Asn826Ser
XM_011536577.1:c.2477A>G XP_011534879.1:p.Asn826Ser
XM_011536578.1:c.2477A>G XP_011534880.1:p.Asn826Ser
XM_011536579.1:c.2477A>G XP_011534881.1:p.Asn826Ser
XM_011536580.1:c.2477A>G XP_011534882.1:p.Asn826Ser
XM_011536581.1:c.2477A>G XP_011534883.1:p.Asn826Ser
XM_011536582.1:c.2477A>G XP_011534884.1:p.Asn826Ser
XM_011536584.1:c.2477A>G XP_011534886.1:p.Asn826Ser
XM_011536575.2:c.2477A>G XP_011534877.1:p.Asn826Ser
XM_011536576.2:c.2477A>G XP_011534878.1:p.Asn826Ser
XM_011536577.2:c.2477A>G XP_011534879.1:p.Asn826Ser
XM_011536580.2:c.2477A>G XP_011534882.1:p.Asn826Ser
XM_011536584.2:c.2477A>G XP_011534886.1:p.Asn826Ser
XM_017021101.1:c.2477A>G XP_016876590.1:p.Asn826Ser
XM_017021102.1:c.2408A>G XP_016876591.1:p.Asn803Ser
XR_001750198.1:n.2707A>G
NM_015180.5:c.2477A>G NP_055995.4:p.Asn826Ser
NM_015180.6:c.2477A>G NP_055995.4:p.Asn826Ser
NM_182914.3:c.2477A>G MANE Select NP_878918.2:p.Asn826Ser