Canonical Allele Identifier: CA347223133

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896330G>C (hg19) ; chr2:g.71669200G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669200G>C , CM000664.2:g.71669200G>C	GRCh38
NC_000002.11:g.71896330G>C , CM000664.1:g.71896330G>C	GRCh37
NC_000002.10:g.71749838G>C	NCBI36
NG_008694.1:g.220578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3049G>C	ENSP00000513536.1:p.Val1017Leu
ENST00000698058.1:c.2266G>C	ENSP00000513537.1:p.Val756Leu
ENST00000698059.1:c.2374G>C	ENSP00000513538.1:p.Val792Leu
ENST00000258104.8:c.5518G>C MANE Plus Clinical	ENSP00000258104.3:p.Val1840Leu
ENST00000410020.8:c.5635G>C MANE Select	ENSP00000386881.3:p.Val1879Leu
ENST00000258104.7:c.5518G>C	ENSP00000258104.3:p.Val1840Leu
ENST00000394120.6:c.5521G>C	ENSP00000377678.2:p.Val1841Leu
ENST00000409366.5:c.5584G>C	ENSP00000386512.1:p.Val1862Leu
ENST00000409582.7:c.5632G>C	ENSP00000386547.3:p.Val1878Leu
ENST00000409651.5:c.5614G>C	ENSP00000386683.1:p.Val1872Leu
ENST00000409744.5:c.5542G>C	ENSP00000386285.1:p.Val1848Leu
ENST00000409762.5:c.5569G>C	ENSP00000387137.1:p.Val1857Leu
ENST00000410020.7:c.5635G>C	ENSP00000386881.3:p.Val1879Leu
ENST00000410041.1:c.5572G>C	ENSP00000386617.1:p.Val1858Leu
ENST00000413539.6:c.5611G>C	ENSP00000407046.2:p.Val1871Leu
ENST00000429174.6:c.5581G>C	ENSP00000398305.2:p.Val1861Leu
ENST00000479049.6:n.2403G>C
NM_001130455.1:c.5521G>C	NP_001123927.1:p.Val1841Leu
NM_001130976.1:c.5476G>C	NP_001124448.1:p.Val1826Leu
NM_001130977.1:c.5539G>C	NP_001124449.1:p.Val1847Leu
NM_001130978.1:c.5581G>C	NP_001124450.1:p.Val1861Leu
NM_001130979.1:c.5611G>C	NP_001124451.1:p.Val1871Leu
NM_001130980.1:c.5569G>C	NP_001124452.1:p.Val1857Leu
NM_001130981.1:c.5632G>C	NP_001124453.1:p.Val1878Leu
NM_001130982.1:c.5614G>C	NP_001124454.1:p.Val1872Leu
NM_001130983.1:c.5584G>C	NP_001124455.1:p.Val1862Leu
NM_001130984.1:c.5542G>C	NP_001124456.1:p.Val1848Leu
NM_001130985.1:c.5572G>C	NP_001124457.1:p.Val1858Leu
NM_001130986.1:c.5479G>C	NP_001124458.1:p.Val1827Leu
NM_001130987.1:c.5635G>C	NP_001124459.1:p.Val1879Leu
NM_003494.3:c.5518G>C	NP_003485.1:p.Val1840Leu
XM_005264584.3:c.5677G>C	XP_005264641.1:p.Val1893Leu
XM_005264585.3:c.5674G>C	XP_005264642.1:p.Val1892Leu
XM_005264584.4:c.5677G>C	XP_005264641.1:p.Val1893Leu
XM_005264585.5:c.5674G>C	XP_005264642.1:p.Val1892Leu
NM_001130987.2:c.5635G>C MANE Select	NP_001124459.1:p.Val1879Leu
NM_001130455.2:c.5521G>C	NP_001123927.1:p.Val1841Leu
NM_001130976.2:c.5476G>C	NP_001124448.1:p.Val1826Leu
NM_001130977.2:c.5539G>C	NP_001124449.1:p.Val1847Leu
NM_001130978.2:c.5581G>C	NP_001124450.1:p.Val1861Leu
NM_001130979.2:c.5611G>C	NP_001124451.1:p.Val1871Leu
NM_001130980.2:c.5569G>C	NP_001124452.1:p.Val1857Leu
NM_001130981.2:c.5632G>C	NP_001124453.1:p.Val1878Leu
NM_001130982.2:c.5614G>C	NP_001124454.1:p.Val1872Leu
NM_001130983.2:c.5584G>C	NP_001124455.1:p.Val1862Leu
NM_001130984.2:c.5542G>C	NP_001124456.1:p.Val1848Leu
NM_001130985.2:c.5572G>C	NP_001124457.1:p.Val1858Leu
NM_001130986.2:c.5479G>C	NP_001124458.1:p.Val1827Leu
NM_003494.4:c.5518G>C MANE Plus Clinical	NP_003485.1:p.Val1840Leu