Canonical Allele Identifier: CA347227916

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913617A>C (hg19) ; chr2:g.71686487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686487A>C , CM000664.2:g.71686487A>C	GRCh38
NC_000002.11:g.71913617A>C , CM000664.1:g.71913617A>C	GRCh37
NC_000002.10:g.71767125A>C	NCBI36
NG_008694.1:g.237865A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3769A>C	ENSP00000513536.1:p.Ser1257Arg
ENST00000698058.1:c.2986A>C	ENSP00000513537.1:p.Ser996Arg
ENST00000698059.1:c.3094A>C	ENSP00000513538.1:p.Ser1032Arg
ENST00000258104.8:c.6238A>C MANE Plus Clinical	ENSP00000258104.3:p.Ser2080Arg
ENST00000410020.8:c.6355A>C MANE Select	ENSP00000386881.3:p.Ser2119Arg
ENST00000258104.7:c.6238A>C	ENSP00000258104.3:p.Ser2080Arg
ENST00000394120.6:c.6241A>C	ENSP00000377678.2:p.Ser2081Arg
ENST00000409366.5:c.6304A>C	ENSP00000386512.1:p.Ser2102Arg
ENST00000409582.7:c.6352A>C	ENSP00000386547.3:p.Ser2118Arg
ENST00000409651.5:c.6334A>C	ENSP00000386683.1:p.Ser2112Arg
ENST00000409744.5:c.6262A>C	ENSP00000386285.1:p.Ser2088Arg
ENST00000409762.5:c.6289A>C	ENSP00000387137.1:p.Ser2097Arg
ENST00000410020.7:c.6355A>C	ENSP00000386881.3:p.Ser2119Arg
ENST00000410041.1:c.6292A>C	ENSP00000386617.1:p.Ser2098Arg
ENST00000413539.6:c.6331A>C	ENSP00000407046.2:p.Ser2111Arg
ENST00000429174.6:c.6301A>C	ENSP00000398305.2:p.Ser2101Arg
ENST00000479049.6:n.3123A>C
NM_001130455.1:c.6241A>C	NP_001123927.1:p.Ser2081Arg
NM_001130976.1:c.6196A>C	NP_001124448.1:p.Ser2066Arg
NM_001130977.1:c.6259A>C	NP_001124449.1:p.Ser2087Arg
NM_001130978.1:c.6301A>C	NP_001124450.1:p.Ser2101Arg
NM_001130979.1:c.6331A>C	NP_001124451.1:p.Ser2111Arg
NM_001130980.1:c.6289A>C	NP_001124452.1:p.Ser2097Arg
NM_001130981.1:c.6352A>C	NP_001124453.1:p.Ser2118Arg
NM_001130982.1:c.6334A>C	NP_001124454.1:p.Ser2112Arg
NM_001130983.1:c.6304A>C	NP_001124455.1:p.Ser2102Arg
NM_001130984.1:c.6262A>C	NP_001124456.1:p.Ser2088Arg
NM_001130985.1:c.6292A>C	NP_001124457.1:p.Ser2098Arg
NM_001130986.1:c.6199A>C	NP_001124458.1:p.Ser2067Arg
NM_001130987.1:c.6355A>C	NP_001124459.1:p.Ser2119Arg
NM_003494.3:c.6238A>C	NP_003485.1:p.Ser2080Arg
XM_005264584.3:c.6397A>C	XP_005264641.1:p.Ser2133Arg
XM_005264585.3:c.6394A>C	XP_005264642.1:p.Ser2132Arg
XM_005264584.4:c.6397A>C	XP_005264641.1:p.Ser2133Arg
XM_005264585.5:c.6394A>C	XP_005264642.1:p.Ser2132Arg
NM_001130987.2:c.6355A>C MANE Select	NP_001124459.1:p.Ser2119Arg
NM_001130455.2:c.6241A>C	NP_001123927.1:p.Ser2081Arg
NM_001130976.2:c.6196A>C	NP_001124448.1:p.Ser2066Arg
NM_001130977.2:c.6259A>C	NP_001124449.1:p.Ser2087Arg
NM_001130978.2:c.6301A>C	NP_001124450.1:p.Ser2101Arg
NM_001130979.2:c.6331A>C	NP_001124451.1:p.Ser2111Arg
NM_001130980.2:c.6289A>C	NP_001124452.1:p.Ser2097Arg
NM_001130981.2:c.6352A>C	NP_001124453.1:p.Ser2118Arg
NM_001130982.2:c.6334A>C	NP_001124454.1:p.Ser2112Arg
NM_001130983.2:c.6304A>C	NP_001124455.1:p.Ser2102Arg
NM_001130984.2:c.6262A>C	NP_001124456.1:p.Ser2088Arg
NM_001130985.2:c.6292A>C	NP_001124457.1:p.Ser2098Arg
NM_001130986.2:c.6199A>C	NP_001124458.1:p.Ser2067Arg
NM_003494.4:c.6238A>C MANE Plus Clinical	NP_003485.1:p.Ser2080Arg