Canonical Allele Identifier: CA10604806

Gene: DYSF

Linked Data

• ClinVar Variation Id: 284471
• ClinVar RCV Id: RCV000265900 ; RCV001859602 ; RCV003401247
• dbSNP Id: rs886042880
• gnomAD v2: 2-71896330-G-A
• gnomAD v4: 2-71669200-G-A
• MyVariant Identifiers: chr2:g.71896330G>A (hg19) ; chr2:g.71669200G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3049G>A	ENSP00000513536.1:p.Val1017Met
ENST00000698058.1:c.2266G>A	ENSP00000513537.1:p.Val756Met
ENST00000698059.1:c.2374G>A	ENSP00000513538.1:p.Val792Met
ENST00000258104.8:c.5518G>A MANE Plus Clinical	ENSP00000258104.3:p.Val1840Met
ENST00000410020.8:c.5635G>A MANE Select	ENSP00000386881.3:p.Val1879Met
ENST00000258104.7:c.5518G>A	ENSP00000258104.3:p.Val1840Met
ENST00000394120.6:c.5521G>A	ENSP00000377678.2:p.Val1841Met
ENST00000409366.5:c.5584G>A	ENSP00000386512.1:p.Val1862Met
ENST00000409582.7:c.5632G>A	ENSP00000386547.3:p.Val1878Met
ENST00000409651.5:c.5614G>A	ENSP00000386683.1:p.Val1872Met
ENST00000409744.5:c.5542G>A	ENSP00000386285.1:p.Val1848Met
ENST00000409762.5:c.5569G>A	ENSP00000387137.1:p.Val1857Met
ENST00000410020.7:c.5635G>A	ENSP00000386881.3:p.Val1879Met
ENST00000410041.1:c.5572G>A	ENSP00000386617.1:p.Val1858Met
ENST00000413539.6:c.5611G>A	ENSP00000407046.2:p.Val1871Met
ENST00000429174.6:c.5581G>A	ENSP00000398305.2:p.Val1861Met
ENST00000479049.6:n.2403G>A
NM_001130455.1:c.5521G>A	NP_001123927.1:p.Val1841Met
NM_001130976.1:c.5476G>A	NP_001124448.1:p.Val1826Met
NM_001130977.1:c.5539G>A	NP_001124449.1:p.Val1847Met
NM_001130978.1:c.5581G>A	NP_001124450.1:p.Val1861Met
NM_001130979.1:c.5611G>A	NP_001124451.1:p.Val1871Met
NM_001130980.1:c.5569G>A	NP_001124452.1:p.Val1857Met
NM_001130981.1:c.5632G>A	NP_001124453.1:p.Val1878Met
NM_001130982.1:c.5614G>A	NP_001124454.1:p.Val1872Met
NM_001130983.1:c.5584G>A	NP_001124455.1:p.Val1862Met
NM_001130984.1:c.5542G>A	NP_001124456.1:p.Val1848Met
NM_001130985.1:c.5572G>A	NP_001124457.1:p.Val1858Met
NM_001130986.1:c.5479G>A	NP_001124458.1:p.Val1827Met
NM_001130987.1:c.5635G>A	NP_001124459.1:p.Val1879Met
NM_003494.3:c.5518G>A	NP_003485.1:p.Val1840Met
XM_005264584.3:c.5677G>A	XP_005264641.1:p.Val1893Met
XM_005264585.3:c.5674G>A	XP_005264642.1:p.Val1892Met
XM_005264584.4:c.5677G>A	XP_005264641.1:p.Val1893Met
XM_005264585.5:c.5674G>A	XP_005264642.1:p.Val1892Met
NM_001130987.2:c.5635G>A MANE Select	NP_001124459.1:p.Val1879Met
NM_001130455.2:c.5521G>A	NP_001123927.1:p.Val1841Met
NM_001130976.2:c.5476G>A	NP_001124448.1:p.Val1826Met
NM_001130977.2:c.5539G>A	NP_001124449.1:p.Val1847Met
NM_001130978.2:c.5581G>A	NP_001124450.1:p.Val1861Met
NM_001130979.2:c.5611G>A	NP_001124451.1:p.Val1871Met
NM_001130980.2:c.5569G>A	NP_001124452.1:p.Val1857Met
NM_001130981.2:c.5632G>A	NP_001124453.1:p.Val1878Met
NM_001130982.2:c.5614G>A	NP_001124454.1:p.Val1872Met
NM_001130983.2:c.5584G>A	NP_001124455.1:p.Val1862Met
NM_001130984.2:c.5542G>A	NP_001124456.1:p.Val1848Met
NM_001130985.2:c.5572G>A	NP_001124457.1:p.Val1858Met
NM_001130986.2:c.5479G>A	NP_001124458.1:p.Val1827Met
NM_003494.4:c.5518G>A MANE Plus Clinical	NP_003485.1:p.Val1840Met