Canonical Allele Identifier: CA347227170

Gene: DYSF

Linked Data

• dbSNP Id: rs121908955
• MyVariant Identifiers: chr2:g.71909727C>A (hg19) ; chr2:g.71682597C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71682597C>A , CM000664.2:g.71682597C>A	GRCh38
NC_000002.11:g.71909727C>A , CM000664.1:g.71909727C>A	GRCh37
NC_000002.10:g.71763235C>A	NCBI36
NG_008694.1:g.233975C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3655C>A	ENSP00000513536.1:p.Arg1219Ser
ENST00000698058.1:c.2872C>A	ENSP00000513537.1:p.Arg958Ser
ENST00000698059.1:c.2980C>A	ENSP00000513538.1:p.Arg994Ser
ENST00000258104.8:c.6124C>A MANE Plus Clinical	ENSP00000258104.3:p.Arg2042Ser
ENST00000410020.8:c.6241C>A MANE Select	ENSP00000386881.3:p.Arg2081Ser
ENST00000258104.7:c.6124C>A	ENSP00000258104.3:p.Arg2042Ser
ENST00000394120.6:c.6127C>A	ENSP00000377678.2:p.Arg2043Ser
ENST00000409366.5:c.6190C>A	ENSP00000386512.1:p.Arg2064Ser
ENST00000409582.7:c.6238C>A	ENSP00000386547.3:p.Arg2080Ser
ENST00000409651.5:c.6220C>A	ENSP00000386683.1:p.Arg2074Ser
ENST00000409744.5:c.6148C>A	ENSP00000386285.1:p.Arg2050Ser
ENST00000409762.5:c.6175C>A	ENSP00000387137.1:p.Arg2059Ser
ENST00000410020.7:c.6241C>A	ENSP00000386881.3:p.Arg2081Ser
ENST00000410041.1:c.6178C>A	ENSP00000386617.1:p.Arg2060Ser
ENST00000413539.6:c.6217C>A	ENSP00000407046.2:p.Arg2073Ser
ENST00000429174.6:c.6187C>A	ENSP00000398305.2:p.Arg2063Ser
ENST00000479049.6:n.3009C>A
NM_001130455.1:c.6127C>A	NP_001123927.1:p.Arg2043Ser
NM_001130976.1:c.6082C>A	NP_001124448.1:p.Arg2028Ser
NM_001130977.1:c.6145C>A	NP_001124449.1:p.Arg2049Ser
NM_001130978.1:c.6187C>A	NP_001124450.1:p.Arg2063Ser
NM_001130979.1:c.6217C>A	NP_001124451.1:p.Arg2073Ser
NM_001130980.1:c.6175C>A	NP_001124452.1:p.Arg2059Ser
NM_001130981.1:c.6238C>A	NP_001124453.1:p.Arg2080Ser
NM_001130982.1:c.6220C>A	NP_001124454.1:p.Arg2074Ser
NM_001130983.1:c.6190C>A	NP_001124455.1:p.Arg2064Ser
NM_001130984.1:c.6148C>A	NP_001124456.1:p.Arg2050Ser
NM_001130985.1:c.6178C>A	NP_001124457.1:p.Arg2060Ser
NM_001130986.1:c.6085C>A	NP_001124458.1:p.Arg2029Ser
NM_001130987.1:c.6241C>A	NP_001124459.1:p.Arg2081Ser
NM_003494.3:c.6124C>A	NP_003485.1:p.Arg2042Ser
XM_005264584.3:c.6283C>A	XP_005264641.1:p.Arg2095Ser
XM_005264585.3:c.6280C>A	XP_005264642.1:p.Arg2094Ser
XM_005264584.4:c.6283C>A	XP_005264641.1:p.Arg2095Ser
XM_005264585.5:c.6280C>A	XP_005264642.1:p.Arg2094Ser
NM_001130987.2:c.6241C>A MANE Select	NP_001124459.1:p.Arg2081Ser
NM_001130455.2:c.6127C>A	NP_001123927.1:p.Arg2043Ser
NM_001130976.2:c.6082C>A	NP_001124448.1:p.Arg2028Ser
NM_001130977.2:c.6145C>A	NP_001124449.1:p.Arg2049Ser
NM_001130978.2:c.6187C>A	NP_001124450.1:p.Arg2063Ser
NM_001130979.2:c.6217C>A	NP_001124451.1:p.Arg2073Ser
NM_001130980.2:c.6175C>A	NP_001124452.1:p.Arg2059Ser
NM_001130981.2:c.6238C>A	NP_001124453.1:p.Arg2080Ser
NM_001130982.2:c.6220C>A	NP_001124454.1:p.Arg2074Ser
NM_001130983.2:c.6190C>A	NP_001124455.1:p.Arg2064Ser
NM_001130984.2:c.6148C>A	NP_001124456.1:p.Arg2050Ser
NM_001130985.2:c.6178C>A	NP_001124457.1:p.Arg2060Ser
NM_001130986.2:c.6085C>A	NP_001124458.1:p.Arg2029Ser
NM_003494.4:c.6124C>A MANE Plus Clinical	NP_003485.1:p.Arg2042Ser