Canonical Allele Identifier: CA7224566
Community Standard Title: NM_182914.3(SYNE2):c.19703A>G (p.Asn6568Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64219253A>G , CM000676.2:g.64219253A>G GRCh38
NC_000014.8:g.64685971A>G , CM000676.1:g.64685971A>G GRCh37
NC_000014.7:g.63755724A>G NCBI36
NG_011756.1:g.371289A>G
NG_011756.2:g.462355A>G

Transcript Alleles

HGVS Amino-acid Change
NM_182914.3:c.19703A>G (SYNE2) MANE Select NP_878918.2:p.Asn6568Ser
ENST00000555002.6:c.19703A>G (SYNE2) MANE Select ENSP00000450831.2:p.Asn6568Ser
NM_015180.4:c.19634A>G (SYNE2) NP_055995.4:p.Asn6545Ser
NM_015180.5:c.19634A>G (SYNE2) NP_055995.4:p.Asn6545Ser
NM_015180.6:c.19634A>G (SYNE2) NP_055995.4:p.Asn6545Ser
NM_182910.2:c.227A>G (SYNE2) NP_878914.1:p.Asn76Ser
NM_182913.2:c.605A>G (SYNE2) NP_878917.1:p.Asn202Ser
NM_182913.3:c.605A>G (SYNE2) NP_878917.1:p.Asn202Ser
NM_182913.4:c.605A>G (SYNE2) NP_878917.1:p.Asn202Ser
NM_182914.2:c.19703A>G (SYNE2) NP_878918.2:p.Asn6568Ser
ENST00000344113.8:c.19634A>G (SYNE2) ENSP00000341781.4:p.Asn6545Ser
ENST00000357395.7:c.19400A>G (SYNE2) ENSP00000349969.4:p.Asn6467Ser
ENST00000358025.7:c.19703A>G (SYNE2) ENSP00000350719.3:p.Asn6568Ser
ENST00000394768.6:c.8789A>G (SYNE2) ENSP00000378249.2:p.Asn2930Ser
ENST00000441438.2:c.227A>G (SYNE2) ENSP00000396794.2:p.Asn76Ser
ENST00000458046.6:c.605A>G (SYNE2) ENSP00000391937.2:p.Asn202Ser
ENST00000553289.5:c.*1509A>G (SYNE2) ENSP00000451184.1:n.*1509A>G
ENST00000554584.5:c.19382A>G (SYNE2) ENSP00000452570.1:p.Asn6461Ser
ENST00000554805.5:c.983A>G (SYNE2) ENSP00000450605.1:p.Asn328Ser
ENST00000554805.6:n.1553A>G (SYNE2)
ENST00000554928.1:n.327A>G (SYNE2)
ENST00000555002.5:c.9605A>G (SYNE2) ENSP00000450831.1:p.Asn3202Ser
ENST00000555022.5:c.1268A>G (SYNE2) ENSP00000451009.1:p.Asn423Ser
ENST00000555612.5:c.*1413A>G (SYNE2) ENSP00000451972.1:n.*1413A>G
ENST00000556275.5:c.1406+15717T>C (ESR2) ENSP00000452485.2:n.1406+15717T>C
ENST00000557084.1:c.*445A>G (SYNE2) ENSP00000450789.1:n.*445A>G
XM_005267454.1:c.19703A>G (SYNE2) XP_005267511.1:p.Asn6568Ser
XM_005267456.1:c.19703A>G (SYNE2) XP_005267513.1:p.Asn6568Ser
XM_005267457.1:c.19703A>G (SYNE2) XP_005267514.1:p.Asn6568Ser
XM_005267458.1:c.19634A>G (SYNE2) XP_005267515.1:p.Asn6545Ser
XM_005267459.1:c.19634A>G (SYNE2) XP_005267516.1:p.Asn6545Ser
XM_011536545.1:c.1406+15717T>C (ESR2) XP_011534847.1:n.1406+15717T>C
XM_011536574.1:c.19745A>G (SYNE2) XP_011534876.1:p.Asn6582Ser
XM_011536575.1:c.19745A>G (SYNE2) XP_011534877.1:p.Asn6582Ser
XM_011536575.2:c.19745A>G (SYNE2) XP_011534877.1:p.Asn6582Ser
XM_011536576.1:c.19745A>G (SYNE2) XP_011534878.1:p.Asn6582Ser
XM_011536576.2:c.19745A>G (SYNE2) XP_011534878.1:p.Asn6582Ser
XM_011536577.1:c.19745A>G (SYNE2) XP_011534879.1:p.Asn6582Ser
XM_011536577.2:c.19745A>G (SYNE2) XP_011534879.1:p.Asn6582Ser
XM_011536578.1:c.19745A>G (SYNE2) XP_011534880.1:p.Asn6582Ser
XM_011536579.1:c.19745A>G (SYNE2) XP_011534881.1:p.Asn6582Ser
XM_011536580.1:c.19745A>G (SYNE2) XP_011534882.1:p.Asn6582Ser
XM_011536580.2:c.19745A>G (SYNE2) XP_011534882.1:p.Asn6582Ser
XM_011536581.1:c.19676A>G (SYNE2) XP_011534883.1:p.Asn6559Ser
XM_011536582.1:c.19628A>G (SYNE2) XP_011534884.1:p.Asn6543Ser
XM_011536583.1:c.16550A>G (SYNE2) XP_011534885.1:p.Asn5517Ser
XM_017021101.1:c.19745A>G (SYNE2) XP_016876590.1:p.Asn6582Ser
XM_017021102.1:c.19676A>G (SYNE2) XP_016876591.1:p.Asn6559Ser
XM_017021103.2:c.1685A>G (SYNE2) XP_016876592.1:p.Asn562Ser
XM_017021104.2:c.1685A>G (SYNE2) XP_016876593.1:p.Asn562Ser