Canonical Allele Identifier: CA1707565

Gene: DYSF

Linked Data

• ClinVar Variation Id: 452293
• ClinVar RCV Id: RCV000520965 ; RCV001829524 ; RCV002528266
• dbSNP Id: rs201784424
• ExAC: 2:71906337 C / T
• gnomAD v2: 2-71906337-C-T
• gnomAD v3: 2-71679207-C-T
• gnomAD v4: 2-71679207-C-T
• MyVariant Identifiers: chr2:g.71906337C>T (hg19) ; chr2:g.71679207C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679207C>T , CM000664.2:g.71679207C>T	GRCh38
NC_000002.11:g.71906337C>T , CM000664.1:g.71906337C>T	GRCh37
NC_000002.10:g.71759845C>T	NCBI36
NG_008694.1:g.230585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3449C>T	ENSP00000513536.1:p.Ala1150Val
ENST00000698058.1:c.2666C>T	ENSP00000513537.1:p.Ala889Val
ENST00000698059.1:c.2774C>T	ENSP00000513538.1:p.Ala925Val
ENST00000258104.8:c.5918C>T MANE Plus Clinical	ENSP00000258104.3:p.Ala1973Val
ENST00000410020.8:c.6035C>T MANE Select	ENSP00000386881.3:p.Ala2012Val
ENST00000258104.7:c.5918C>T	ENSP00000258104.3:p.Ala1973Val
ENST00000394120.6:c.5921C>T	ENSP00000377678.2:p.Ala1974Val
ENST00000409366.5:c.5984C>T	ENSP00000386512.1:p.Ala1995Val
ENST00000409582.7:c.6032C>T	ENSP00000386547.3:p.Ala2011Val
ENST00000409651.5:c.6014C>T	ENSP00000386683.1:p.Ala2005Val
ENST00000409744.5:c.5942C>T	ENSP00000386285.1:p.Ala1981Val
ENST00000409762.5:c.5969C>T	ENSP00000387137.1:p.Ala1990Val
ENST00000410020.7:c.6035C>T	ENSP00000386881.3:p.Ala2012Val
ENST00000410041.1:c.5972C>T	ENSP00000386617.1:p.Ala1991Val
ENST00000413539.6:c.6011C>T	ENSP00000407046.2:p.Ala2004Val
ENST00000429174.6:c.5981C>T	ENSP00000398305.2:p.Ala1994Val
ENST00000479049.6:n.2803C>T
NM_001130455.1:c.5921C>T	NP_001123927.1:p.Ala1974Val
NM_001130976.1:c.5876C>T	NP_001124448.1:p.Ala1959Val
NM_001130977.1:c.5939C>T	NP_001124449.1:p.Ala1980Val
NM_001130978.1:c.5981C>T	NP_001124450.1:p.Ala1994Val
NM_001130979.1:c.6011C>T	NP_001124451.1:p.Ala2004Val
NM_001130980.1:c.5969C>T	NP_001124452.1:p.Ala1990Val
NM_001130981.1:c.6032C>T	NP_001124453.1:p.Ala2011Val
NM_001130982.1:c.6014C>T	NP_001124454.1:p.Ala2005Val
NM_001130983.1:c.5984C>T	NP_001124455.1:p.Ala1995Val
NM_001130984.1:c.5942C>T	NP_001124456.1:p.Ala1981Val
NM_001130985.1:c.5972C>T	NP_001124457.1:p.Ala1991Val
NM_001130986.1:c.5879C>T	NP_001124458.1:p.Ala1960Val
NM_001130987.1:c.6035C>T	NP_001124459.1:p.Ala2012Val
NM_003494.3:c.5918C>T	NP_003485.1:p.Ala1973Val
XM_005264584.3:c.6077C>T	XP_005264641.1:p.Ala2026Val
XM_005264585.3:c.6074C>T	XP_005264642.1:p.Ala2025Val
XM_005264584.4:c.6077C>T	XP_005264641.1:p.Ala2026Val
XM_005264585.5:c.6074C>T	XP_005264642.1:p.Ala2025Val
NM_001130987.2:c.6035C>T MANE Select	NP_001124459.1:p.Ala2012Val
NM_001130455.2:c.5921C>T	NP_001123927.1:p.Ala1974Val
NM_001130976.2:c.5876C>T	NP_001124448.1:p.Ala1959Val
NM_001130977.2:c.5939C>T	NP_001124449.1:p.Ala1980Val
NM_001130978.2:c.5981C>T	NP_001124450.1:p.Ala1994Val
NM_001130979.2:c.6011C>T	NP_001124451.1:p.Ala2004Val
NM_001130980.2:c.5969C>T	NP_001124452.1:p.Ala1990Val
NM_001130981.2:c.6032C>T	NP_001124453.1:p.Ala2011Val
NM_001130982.2:c.6014C>T	NP_001124454.1:p.Ala2005Val
NM_001130983.2:c.5984C>T	NP_001124455.1:p.Ala1995Val
NM_001130984.2:c.5942C>T	NP_001124456.1:p.Ala1981Val
NM_001130985.2:c.5972C>T	NP_001124457.1:p.Ala1991Val
NM_001130986.2:c.5879C>T	NP_001124458.1:p.Ala1960Val
NM_003494.4:c.5918C>T MANE Plus Clinical	NP_003485.1:p.Ala1973Val