Canonical Allele Identifier: CA347222077

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896246T>G (hg19) ; chr2:g.71669116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669116T>G , CM000664.2:g.71669116T>G	GRCh38
NC_000002.11:g.71896246T>G , CM000664.1:g.71896246T>G	GRCh37
NC_000002.10:g.71749754T>G	NCBI36
NG_008694.1:g.220494T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2965T>G	ENSP00000513536.1:p.Phe989Val
ENST00000698058.1:c.2182T>G	ENSP00000513537.1:p.Phe728Val
ENST00000698059.1:c.2290T>G	ENSP00000513538.1:p.Phe764Val
ENST00000258104.8:c.5434T>G MANE Plus Clinical	ENSP00000258104.3:p.Phe1812Val
ENST00000410020.8:c.5551T>G MANE Select	ENSP00000386881.3:p.Phe1851Val
ENST00000258104.7:c.5434T>G	ENSP00000258104.3:p.Phe1812Val
ENST00000394120.6:c.5437T>G	ENSP00000377678.2:p.Phe1813Val
ENST00000409366.5:c.5500T>G	ENSP00000386512.1:p.Phe1834Val
ENST00000409582.7:c.5548T>G	ENSP00000386547.3:p.Phe1850Val
ENST00000409651.5:c.5530T>G	ENSP00000386683.1:p.Phe1844Val
ENST00000409744.5:c.5458T>G	ENSP00000386285.1:p.Phe1820Val
ENST00000409762.5:c.5485T>G	ENSP00000387137.1:p.Phe1829Val
ENST00000410020.7:c.5551T>G	ENSP00000386881.3:p.Phe1851Val
ENST00000410041.1:c.5488T>G	ENSP00000386617.1:p.Phe1830Val
ENST00000413539.6:c.5527T>G	ENSP00000407046.2:p.Phe1843Val
ENST00000429174.6:c.5497T>G	ENSP00000398305.2:p.Phe1833Val
ENST00000479049.6:n.2319T>G
NM_001130455.1:c.5437T>G	NP_001123927.1:p.Phe1813Val
NM_001130976.1:c.5392T>G	NP_001124448.1:p.Phe1798Val
NM_001130977.1:c.5455T>G	NP_001124449.1:p.Phe1819Val
NM_001130978.1:c.5497T>G	NP_001124450.1:p.Phe1833Val
NM_001130979.1:c.5527T>G	NP_001124451.1:p.Phe1843Val
NM_001130980.1:c.5485T>G	NP_001124452.1:p.Phe1829Val
NM_001130981.1:c.5548T>G	NP_001124453.1:p.Phe1850Val
NM_001130982.1:c.5530T>G	NP_001124454.1:p.Phe1844Val
NM_001130983.1:c.5500T>G	NP_001124455.1:p.Phe1834Val
NM_001130984.1:c.5458T>G	NP_001124456.1:p.Phe1820Val
NM_001130985.1:c.5488T>G	NP_001124457.1:p.Phe1830Val
NM_001130986.1:c.5395T>G	NP_001124458.1:p.Phe1799Val
NM_001130987.1:c.5551T>G	NP_001124459.1:p.Phe1851Val
NM_003494.3:c.5434T>G	NP_003485.1:p.Phe1812Val
XM_005264584.3:c.5593T>G	XP_005264641.1:p.Phe1865Val
XM_005264585.3:c.5590T>G	XP_005264642.1:p.Phe1864Val
XM_005264584.4:c.5593T>G	XP_005264641.1:p.Phe1865Val
XM_005264585.5:c.5590T>G	XP_005264642.1:p.Phe1864Val
NM_001130987.2:c.5551T>G MANE Select	NP_001124459.1:p.Phe1851Val
NM_001130455.2:c.5437T>G	NP_001123927.1:p.Phe1813Val
NM_001130976.2:c.5392T>G	NP_001124448.1:p.Phe1798Val
NM_001130977.2:c.5455T>G	NP_001124449.1:p.Phe1819Val
NM_001130978.2:c.5497T>G	NP_001124450.1:p.Phe1833Val
NM_001130979.2:c.5527T>G	NP_001124451.1:p.Phe1843Val
NM_001130980.2:c.5485T>G	NP_001124452.1:p.Phe1829Val
NM_001130981.2:c.5548T>G	NP_001124453.1:p.Phe1850Val
NM_001130982.2:c.5530T>G	NP_001124454.1:p.Phe1844Val
NM_001130983.2:c.5500T>G	NP_001124455.1:p.Phe1834Val
NM_001130984.2:c.5458T>G	NP_001124456.1:p.Phe1820Val
NM_001130985.2:c.5488T>G	NP_001124457.1:p.Phe1830Val
NM_001130986.2:c.5395T>G	NP_001124458.1:p.Phe1799Val
NM_003494.4:c.5434T>G MANE Plus Clinical	NP_003485.1:p.Phe1812Val