Canonical Allele Identifier: CA7224225
Community Standard Title: NM_182914.3(SYNE2):c.18838G>A (p.Asp6280Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64212075G>A , CM000676.2:g.64212075G>A GRCh38
NC_000014.8:g.64678793G>A , CM000676.1:g.64678793G>A GRCh37
NC_000014.7:g.63748546G>A NCBI36
NG_011756.1:g.364111G>A
NG_011756.2:g.455177G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.18838G>A (SYNE2) MANE Select NP_878918.2:p.Asp6280Asn
ENST00000555002.6:c.18838G>A (SYNE2) MANE Select ENSP00000450831.2:p.Asp6280Asn
NM_015180.4:c.18838G>A (SYNE2) NP_055995.4:p.Asp6280Asn
NM_015180.5:c.18838G>A (SYNE2) NP_055995.4:p.Asp6280Asn
NM_015180.6:c.18838G>A (SYNE2) NP_055995.4:p.Asp6280Asn
NM_182914.2:c.18838G>A (SYNE2) NP_878918.2:p.Asp6280Asn
ENST00000344113.8:c.18838G>A (SYNE2) ENSP00000341781.4:p.Asp6280Asn
ENST00000357395.7:c.18733G>A (SYNE2) ENSP00000349969.4:p.Asp6245Asn
ENST00000358025.7:c.18838G>A (SYNE2) ENSP00000350719.3:p.Asp6280Asn
ENST00000394768.6:c.7993G>A (SYNE2) ENSP00000378249.2:p.Asp2665Asn
ENST00000553289.5:c.*713G>A (SYNE2) ENSP00000451184.1:n.*713G>A
ENST00000553806.5:n.757G>A (SYNE2)
ENST00000554584.5:c.18715G>A (SYNE2) ENSP00000452570.1:p.Asp6239Asn
ENST00000554805.5:c.187G>A (SYNE2) ENSP00000450605.1:p.Asp63Asn
ENST00000554805.6:n.757G>A (SYNE2)
ENST00000554997.1:n.632G>A (SYNE2)
ENST00000555002.5:c.8740G>A (SYNE2) ENSP00000450831.1:p.Asp2914Asn
ENST00000555022.5:c.472G>A (SYNE2) ENSP00000451009.1:p.Asp158Asn
ENST00000555612.5:c.*617G>A (SYNE2) ENSP00000451972.1:n.*617G>A
ENST00000556275.5:c.1406+22895C>T (ESR2) ENSP00000452485.2:n.1406+22895C>T
XM_005267454.1:c.18838G>A (SYNE2) XP_005267511.1:p.Asp6280Asn
XM_005267456.1:c.18838G>A (SYNE2) XP_005267513.1:p.Asp6280Asn
XM_005267457.1:c.18838G>A (SYNE2) XP_005267514.1:p.Asp6280Asn
XM_005267458.1:c.18838G>A (SYNE2) XP_005267515.1:p.Asp6280Asn
XM_005267459.1:c.18838G>A (SYNE2) XP_005267516.1:p.Asp6280Asn
XM_011536545.1:c.1406+22895C>T (ESR2) XP_011534847.1:n.1406+22895C>T
XM_011536574.1:c.18838G>A (SYNE2) XP_011534876.1:p.Asp6280Asn
XM_011536575.1:c.18838G>A (SYNE2) XP_011534877.1:p.Asp6280Asn
XM_011536575.2:c.18838G>A (SYNE2) XP_011534877.1:p.Asp6280Asn
XM_011536576.1:c.18838G>A (SYNE2) XP_011534878.1:p.Asp6280Asn
XM_011536576.2:c.18838G>A (SYNE2) XP_011534878.1:p.Asp6280Asn
XM_011536577.1:c.18838G>A (SYNE2) XP_011534879.1:p.Asp6280Asn
XM_011536577.2:c.18838G>A (SYNE2) XP_011534879.1:p.Asp6280Asn
XM_011536578.1:c.18838G>A (SYNE2) XP_011534880.1:p.Asp6280Asn
XM_011536579.1:c.18838G>A (SYNE2) XP_011534881.1:p.Asp6280Asn
XM_011536580.1:c.18838G>A (SYNE2) XP_011534882.1:p.Asp6280Asn
XM_011536580.2:c.18838G>A (SYNE2) XP_011534882.1:p.Asp6280Asn
XM_011536581.1:c.18838G>A (SYNE2) XP_011534883.1:p.Asp6280Asn
XM_011536582.1:c.18721G>A (SYNE2) XP_011534884.1:p.Asp6241Asn
XM_011536583.1:c.15643G>A (SYNE2) XP_011534885.1:p.Asp5215Asn
XM_017021101.1:c.18838G>A (SYNE2) XP_016876590.1:p.Asp6280Asn
XM_017021102.1:c.18769G>A (SYNE2) XP_016876591.1:p.Asp6257Asn
XM_017021103.2:c.820G>A (SYNE2) XP_016876592.1:p.Asp274Asn
XM_017021104.2:c.820G>A (SYNE2) XP_016876593.1:p.Asp274Asn