Canonical Allele Identifier: CA426704477

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896759C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669629C>T , CM000664.2:g.71669629C>T	GRCh38
NC_000002.11:g.71896759C>T , CM000664.1:g.71896759C>T	GRCh37
NC_000002.10:g.71750267C>T	NCBI36
NG_008694.1:g.221007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3081C>T	ENSP00000513536.1:p.His1027=
ENST00000698058.1:c.2298C>T	ENSP00000513537.1:p.His766=
ENST00000698059.1:c.2406C>T	ENSP00000513538.1:p.His802=
ENST00000258104.8:c.5550C>T MANE Plus Clinical	ENSP00000258104.3:p.His1850=
ENST00000410020.8:c.5667C>T MANE Select	ENSP00000386881.3:p.His1889=
ENST00000258104.7:c.5550C>T	ENSP00000258104.3:p.His1850=
ENST00000394120.6:c.5553C>T	ENSP00000377678.2:p.His1851=
ENST00000409366.5:c.5616C>T	ENSP00000386512.1:p.His1872=
ENST00000409582.7:c.5664C>T	ENSP00000386547.3:p.His1888=
ENST00000409651.5:c.5646C>T	ENSP00000386683.1:p.His1882=
ENST00000409744.5:c.5574C>T	ENSP00000386285.1:p.His1858=
ENST00000409762.5:c.5601C>T	ENSP00000387137.1:p.His1867=
ENST00000410020.7:c.5667C>T	ENSP00000386881.3:p.His1889=
ENST00000410041.1:c.5604C>T	ENSP00000386617.1:p.His1868=
ENST00000413539.6:c.5643C>T	ENSP00000407046.2:p.His1881=
ENST00000429174.6:c.5613C>T	ENSP00000398305.2:p.His1871=
ENST00000479049.6:n.2435C>T
NM_001130455.1:c.5553C>T	NP_001123927.1:p.His1851=
NM_001130976.1:c.5508C>T	NP_001124448.1:p.His1836=
NM_001130977.1:c.5571C>T	NP_001124449.1:p.His1857=
NM_001130978.1:c.5613C>T	NP_001124450.1:p.His1871=
NM_001130979.1:c.5643C>T	NP_001124451.1:p.His1881=
NM_001130980.1:c.5601C>T	NP_001124452.1:p.His1867=
NM_001130981.1:c.5664C>T	NP_001124453.1:p.His1888=
NM_001130982.1:c.5646C>T	NP_001124454.1:p.His1882=
NM_001130983.1:c.5616C>T	NP_001124455.1:p.His1872=
NM_001130984.1:c.5574C>T	NP_001124456.1:p.His1858=
NM_001130985.1:c.5604C>T	NP_001124457.1:p.His1868=
NM_001130986.1:c.5511C>T	NP_001124458.1:p.His1837=
NM_001130987.1:c.5667C>T	NP_001124459.1:p.His1889=
NM_003494.3:c.5550C>T	NP_003485.1:p.His1850=
XM_005264584.3:c.5709C>T	XP_005264641.1:p.His1903=
XM_005264585.3:c.5706C>T	XP_005264642.1:p.His1902=
XM_005264584.4:c.5709C>T	XP_005264641.1:p.His1903=
XM_005264585.5:c.5706C>T	XP_005264642.1:p.His1902=
NM_001130987.2:c.5667C>T MANE Select	NP_001124459.1:p.His1889=
NM_001130455.2:c.5553C>T	NP_001123927.1:p.His1851=
NM_001130976.2:c.5508C>T	NP_001124448.1:p.His1836=
NM_001130977.2:c.5571C>T	NP_001124449.1:p.His1857=
NM_001130978.2:c.5613C>T	NP_001124450.1:p.His1871=
NM_001130979.2:c.5643C>T	NP_001124451.1:p.His1881=
NM_001130980.2:c.5601C>T	NP_001124452.1:p.His1867=
NM_001130981.2:c.5664C>T	NP_001124453.1:p.His1888=
NM_001130982.2:c.5646C>T	NP_001124454.1:p.His1882=
NM_001130983.2:c.5616C>T	NP_001124455.1:p.His1872=
NM_001130984.2:c.5574C>T	NP_001124456.1:p.His1858=
NM_001130985.2:c.5604C>T	NP_001124457.1:p.His1868=
NM_001130986.2:c.5511C>T	NP_001124458.1:p.His1837=
NM_003494.4:c.5550C>T MANE Plus Clinical	NP_003485.1:p.His1850=