Canonical Allele Identifier: CA1707488

Gene: DYSF

Linked Data

• dbSNP Id: rs760856814
• ExAC: 2:71896866 T / C
• gnomAD v2: 2-71896866-T-C
• gnomAD v4: 2-71669736-T-C
• MyVariant Identifiers: chr2:g.71896866T>C (hg19) ; chr2:g.71669736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669736T>C , CM000664.2:g.71669736T>C	GRCh38
NC_000002.11:g.71896866T>C , CM000664.1:g.71896866T>C	GRCh37
NC_000002.10:g.71750374T>C	NCBI36
NG_008694.1:g.221114T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3188T>C	ENSP00000513536.1:p.Ile1063Thr
ENST00000698058.1:c.2405T>C	ENSP00000513537.1:p.Ile802Thr
ENST00000698059.1:c.2513T>C	ENSP00000513538.1:p.Ile838Thr
ENST00000258104.8:c.5657T>C MANE Plus Clinical	ENSP00000258104.3:p.Ile1886Thr
ENST00000410020.8:c.5774T>C MANE Select	ENSP00000386881.3:p.Ile1925Thr
ENST00000258104.7:c.5657T>C	ENSP00000258104.3:p.Ile1886Thr
ENST00000394120.6:c.5660T>C	ENSP00000377678.2:p.Ile1887Thr
ENST00000409366.5:c.5723T>C	ENSP00000386512.1:p.Ile1908Thr
ENST00000409582.7:c.5771T>C	ENSP00000386547.3:p.Ile1924Thr
ENST00000409651.5:c.5753T>C	ENSP00000386683.1:p.Ile1918Thr
ENST00000409744.5:c.5681T>C	ENSP00000386285.1:p.Ile1894Thr
ENST00000409762.5:c.5708T>C	ENSP00000387137.1:p.Ile1903Thr
ENST00000410020.7:c.5774T>C	ENSP00000386881.3:p.Ile1925Thr
ENST00000410041.1:c.5711T>C	ENSP00000386617.1:p.Ile1904Thr
ENST00000413539.6:c.5750T>C	ENSP00000407046.2:p.Ile1917Thr
ENST00000429174.6:c.5720T>C	ENSP00000398305.2:p.Ile1907Thr
ENST00000479049.6:n.2542T>C
NM_001130455.1:c.5660T>C	NP_001123927.1:p.Ile1887Thr
NM_001130976.1:c.5615T>C	NP_001124448.1:p.Ile1872Thr
NM_001130977.1:c.5678T>C	NP_001124449.1:p.Ile1893Thr
NM_001130978.1:c.5720T>C	NP_001124450.1:p.Ile1907Thr
NM_001130979.1:c.5750T>C	NP_001124451.1:p.Ile1917Thr
NM_001130980.1:c.5708T>C	NP_001124452.1:p.Ile1903Thr
NM_001130981.1:c.5771T>C	NP_001124453.1:p.Ile1924Thr
NM_001130982.1:c.5753T>C	NP_001124454.1:p.Ile1918Thr
NM_001130983.1:c.5723T>C	NP_001124455.1:p.Ile1908Thr
NM_001130984.1:c.5681T>C	NP_001124456.1:p.Ile1894Thr
NM_001130985.1:c.5711T>C	NP_001124457.1:p.Ile1904Thr
NM_001130986.1:c.5618T>C	NP_001124458.1:p.Ile1873Thr
NM_001130987.1:c.5774T>C	NP_001124459.1:p.Ile1925Thr
NM_003494.3:c.5657T>C	NP_003485.1:p.Ile1886Thr
XM_005264584.3:c.5816T>C	XP_005264641.1:p.Ile1939Thr
XM_005264585.3:c.5813T>C	XP_005264642.1:p.Ile1938Thr
XM_005264584.4:c.5816T>C	XP_005264641.1:p.Ile1939Thr
XM_005264585.5:c.5813T>C	XP_005264642.1:p.Ile1938Thr
NM_001130987.2:c.5774T>C MANE Select	NP_001124459.1:p.Ile1925Thr
NM_001130455.2:c.5660T>C	NP_001123927.1:p.Ile1887Thr
NM_001130976.2:c.5615T>C	NP_001124448.1:p.Ile1872Thr
NM_001130977.2:c.5678T>C	NP_001124449.1:p.Ile1893Thr
NM_001130978.2:c.5720T>C	NP_001124450.1:p.Ile1907Thr
NM_001130979.2:c.5750T>C	NP_001124451.1:p.Ile1917Thr
NM_001130980.2:c.5708T>C	NP_001124452.1:p.Ile1903Thr
NM_001130981.2:c.5771T>C	NP_001124453.1:p.Ile1924Thr
NM_001130982.2:c.5753T>C	NP_001124454.1:p.Ile1918Thr
NM_001130983.2:c.5723T>C	NP_001124455.1:p.Ile1908Thr
NM_001130984.2:c.5681T>C	NP_001124456.1:p.Ile1894Thr
NM_001130985.2:c.5711T>C	NP_001124457.1:p.Ile1904Thr
NM_001130986.2:c.5618T>C	NP_001124458.1:p.Ile1873Thr
NM_003494.4:c.5657T>C MANE Plus Clinical	NP_003485.1:p.Ile1886Thr