Canonical Allele Identifier: CA222188

Gene: DYSF

Linked Data

• ClinVar Variation Id: 94339
• ClinVar RCV Id: RCV000178687 ; RCV003574712
• dbSNP Id: rs201592500
• MyVariant Identifiers: chr2:g.71896309G>T (hg19) ; chr2:g.71669179G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669179G>T , CM000664.2:g.71669179G>T	GRCh38
NC_000002.11:g.71896309G>T , CM000664.1:g.71896309G>T	GRCh37
NC_000002.10:g.71749817G>T	NCBI36
NG_008694.1:g.220557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3028G>T	ENSP00000513536.1:p.Glu1010Ter
ENST00000698058.1:c.2245G>T	ENSP00000513537.1:p.Glu749Ter
ENST00000698059.1:c.2353G>T	ENSP00000513538.1:p.Glu785Ter
ENST00000258104.8:c.5497G>T MANE Plus Clinical	ENSP00000258104.3:p.Glu1833Ter
ENST00000410020.8:c.5614G>T MANE Select	ENSP00000386881.3:p.Glu1872Ter
ENST00000258104.7:c.5497G>T	ENSP00000258104.3:p.Glu1833Ter
ENST00000394120.6:c.5500G>T	ENSP00000377678.2:p.Glu1834Ter
ENST00000409366.5:c.5563G>T	ENSP00000386512.1:p.Glu1855Ter
ENST00000409582.7:c.5611G>T	ENSP00000386547.3:p.Glu1871Ter
ENST00000409651.5:c.5593G>T	ENSP00000386683.1:p.Glu1865Ter
ENST00000409744.5:c.5521G>T	ENSP00000386285.1:p.Glu1841Ter
ENST00000409762.5:c.5548G>T	ENSP00000387137.1:p.Glu1850Ter
ENST00000410020.7:c.5614G>T	ENSP00000386881.3:p.Glu1872Ter
ENST00000410041.1:c.5551G>T	ENSP00000386617.1:p.Glu1851Ter
ENST00000413539.6:c.5590G>T	ENSP00000407046.2:p.Glu1864Ter
ENST00000429174.6:c.5560G>T	ENSP00000398305.2:p.Glu1854Ter
ENST00000479049.6:n.2382G>T
NM_001130455.1:c.5500G>T	NP_001123927.1:p.Glu1834Ter
NM_001130976.1:c.5455G>T	NP_001124448.1:p.Glu1819Ter
NM_001130977.1:c.5518G>T	NP_001124449.1:p.Glu1840Ter
NM_001130978.1:c.5560G>T	NP_001124450.1:p.Glu1854Ter
NM_001130979.1:c.5590G>T	NP_001124451.1:p.Glu1864Ter
NM_001130980.1:c.5548G>T	NP_001124452.1:p.Glu1850Ter
NM_001130981.1:c.5611G>T	NP_001124453.1:p.Glu1871Ter
NM_001130982.1:c.5593G>T	NP_001124454.1:p.Glu1865Ter
NM_001130983.1:c.5563G>T	NP_001124455.1:p.Glu1855Ter
NM_001130984.1:c.5521G>T	NP_001124456.1:p.Glu1841Ter
NM_001130985.1:c.5551G>T	NP_001124457.1:p.Glu1851Ter
NM_001130986.1:c.5458G>T	NP_001124458.1:p.Glu1820Ter
NM_001130987.1:c.5614G>T	NP_001124459.1:p.Glu1872Ter
NM_003494.3:c.5497G>T	NP_003485.1:p.Glu1833Ter
XM_005264584.3:c.5656G>T	XP_005264641.1:p.Glu1886Ter
XM_005264585.3:c.5653G>T	XP_005264642.1:p.Glu1885Ter
XM_005264584.4:c.5656G>T	XP_005264641.1:p.Glu1886Ter
XM_005264585.5:c.5653G>T	XP_005264642.1:p.Glu1885Ter
NM_001130987.2:c.5614G>T MANE Select	NP_001124459.1:p.Glu1872Ter
NM_001130455.2:c.5500G>T	NP_001123927.1:p.Glu1834Ter
NM_001130976.2:c.5455G>T	NP_001124448.1:p.Glu1819Ter
NM_001130977.2:c.5518G>T	NP_001124449.1:p.Glu1840Ter
NM_001130978.2:c.5560G>T	NP_001124450.1:p.Glu1854Ter
NM_001130979.2:c.5590G>T	NP_001124451.1:p.Glu1864Ter
NM_001130980.2:c.5548G>T	NP_001124452.1:p.Glu1850Ter
NM_001130981.2:c.5611G>T	NP_001124453.1:p.Glu1871Ter
NM_001130982.2:c.5593G>T	NP_001124454.1:p.Glu1865Ter
NM_001130983.2:c.5563G>T	NP_001124455.1:p.Glu1855Ter
NM_001130984.2:c.5521G>T	NP_001124456.1:p.Glu1841Ter
NM_001130985.2:c.5551G>T	NP_001124457.1:p.Glu1851Ter
NM_001130986.2:c.5458G>T	NP_001124458.1:p.Glu1820Ter
NM_003494.4:c.5497G>T MANE Plus Clinical	NP_003485.1:p.Glu1833Ter