Canonical Allele Identifier: CA347226312

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906235C>A (hg19) ; chr2:g.71679105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679105C>A , CM000664.2:g.71679105C>A	GRCh38
NC_000002.11:g.71906235C>A , CM000664.1:g.71906235C>A	GRCh37
NC_000002.10:g.71759743C>A	NCBI36
NG_008694.1:g.230483C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3347C>A	ENSP00000513536.1:p.Ala1116Asp
ENST00000698058.1:c.2564C>A	ENSP00000513537.1:p.Ala855Asp
ENST00000698059.1:c.2672C>A	ENSP00000513538.1:p.Ala891Asp
ENST00000258104.8:c.5816C>A MANE Plus Clinical	ENSP00000258104.3:p.Ala1939Asp
ENST00000410020.8:c.5933C>A MANE Select	ENSP00000386881.3:p.Ala1978Asp
ENST00000258104.7:c.5816C>A	ENSP00000258104.3:p.Ala1939Asp
ENST00000394120.6:c.5819C>A	ENSP00000377678.2:p.Ala1940Asp
ENST00000409366.5:c.5882C>A	ENSP00000386512.1:p.Ala1961Asp
ENST00000409582.7:c.5930C>A	ENSP00000386547.3:p.Ala1977Asp
ENST00000409651.5:c.5912C>A	ENSP00000386683.1:p.Ala1971Asp
ENST00000409744.5:c.5840C>A	ENSP00000386285.1:p.Ala1947Asp
ENST00000409762.5:c.5867C>A	ENSP00000387137.1:p.Ala1956Asp
ENST00000410020.7:c.5933C>A	ENSP00000386881.3:p.Ala1978Asp
ENST00000410041.1:c.5870C>A	ENSP00000386617.1:p.Ala1957Asp
ENST00000413539.6:c.5909C>A	ENSP00000407046.2:p.Ala1970Asp
ENST00000429174.6:c.5879C>A	ENSP00000398305.2:p.Ala1960Asp
ENST00000479049.6:n.2701C>A
NM_001130455.1:c.5819C>A	NP_001123927.1:p.Ala1940Asp
NM_001130976.1:c.5774C>A	NP_001124448.1:p.Ala1925Asp
NM_001130977.1:c.5837C>A	NP_001124449.1:p.Ala1946Asp
NM_001130978.1:c.5879C>A	NP_001124450.1:p.Ala1960Asp
NM_001130979.1:c.5909C>A	NP_001124451.1:p.Ala1970Asp
NM_001130980.1:c.5867C>A	NP_001124452.1:p.Ala1956Asp
NM_001130981.1:c.5930C>A	NP_001124453.1:p.Ala1977Asp
NM_001130982.1:c.5912C>A	NP_001124454.1:p.Ala1971Asp
NM_001130983.1:c.5882C>A	NP_001124455.1:p.Ala1961Asp
NM_001130984.1:c.5840C>A	NP_001124456.1:p.Ala1947Asp
NM_001130985.1:c.5870C>A	NP_001124457.1:p.Ala1957Asp
NM_001130986.1:c.5777C>A	NP_001124458.1:p.Ala1926Asp
NM_001130987.1:c.5933C>A	NP_001124459.1:p.Ala1978Asp
NM_003494.3:c.5816C>A	NP_003485.1:p.Ala1939Asp
XM_005264584.3:c.5975C>A	XP_005264641.1:p.Ala1992Asp
XM_005264585.3:c.5972C>A	XP_005264642.1:p.Ala1991Asp
XM_005264584.4:c.5975C>A	XP_005264641.1:p.Ala1992Asp
XM_005264585.5:c.5972C>A	XP_005264642.1:p.Ala1991Asp
NM_001130987.2:c.5933C>A MANE Select	NP_001124459.1:p.Ala1978Asp
NM_001130455.2:c.5819C>A	NP_001123927.1:p.Ala1940Asp
NM_001130976.2:c.5774C>A	NP_001124448.1:p.Ala1925Asp
NM_001130977.2:c.5837C>A	NP_001124449.1:p.Ala1946Asp
NM_001130978.2:c.5879C>A	NP_001124450.1:p.Ala1960Asp
NM_001130979.2:c.5909C>A	NP_001124451.1:p.Ala1970Asp
NM_001130980.2:c.5867C>A	NP_001124452.1:p.Ala1956Asp
NM_001130981.2:c.5930C>A	NP_001124453.1:p.Ala1977Asp
NM_001130982.2:c.5912C>A	NP_001124454.1:p.Ala1971Asp
NM_001130983.2:c.5882C>A	NP_001124455.1:p.Ala1961Asp
NM_001130984.2:c.5840C>A	NP_001124456.1:p.Ala1947Asp
NM_001130985.2:c.5870C>A	NP_001124457.1:p.Ala1957Asp
NM_001130986.2:c.5777C>A	NP_001124458.1:p.Ala1926Asp
NM_003494.4:c.5816C>A MANE Plus Clinical	NP_003485.1:p.Ala1939Asp