Canonical Allele Identifier: CA1707307

Gene: DYSF

Linked Data

• ClinVar Variation Id: 290354
• ClinVar RCV Id: RCV000328882 ; RCV000557258 ; RCV001833407
• dbSNP Id: rs746919714
• ExAC: 2:71892386 A / C
• gnomAD v2: 2-71892386-A-C
• gnomAD v3: 2-71665256-A-C
• gnomAD v4: 2-71665256-A-C
• MyVariant Identifiers: chr2:g.71892386A>C (hg19) ; chr2:g.71665256A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71665256A>C , CM000664.2:g.71665256A>C	GRCh38
NC_000002.11:g.71892386A>C , CM000664.1:g.71892386A>C	GRCh37
NC_000002.10:g.71745894A>C	NCBI36
NG_008694.1:g.216634A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.2683A>C	ENSP00000513536.1:p.Thr895Pro
ENST00000698058.1:c.1900A>C	ENSP00000513537.1:p.Thr634Pro
ENST00000698059.1:c.2008A>C	ENSP00000513538.1:p.Thr670Pro
ENST00000258104.8:c.5152A>C MANE Plus Clinical	ENSP00000258104.3:p.Thr1718Pro
ENST00000410020.8:c.5269A>C MANE Select	ENSP00000386881.3:p.Thr1757Pro
ENST00000258104.7:c.5152A>C	ENSP00000258104.3:p.Thr1718Pro
ENST00000394120.6:c.5155A>C	ENSP00000377678.2:p.Thr1719Pro
ENST00000409366.5:c.5218A>C	ENSP00000386512.1:p.Thr1740Pro
ENST00000409582.7:c.5266A>C	ENSP00000386547.3:p.Thr1756Pro
ENST00000409651.5:c.5248A>C	ENSP00000386683.1:p.Thr1750Pro
ENST00000409744.5:c.5176A>C	ENSP00000386285.1:p.Thr1726Pro
ENST00000409762.5:c.5203A>C	ENSP00000387137.1:p.Thr1735Pro
ENST00000410020.7:c.5269A>C	ENSP00000386881.3:p.Thr1757Pro
ENST00000410041.1:c.5206A>C	ENSP00000386617.1:p.Thr1736Pro
ENST00000413539.6:c.5245A>C	ENSP00000407046.2:p.Thr1749Pro
ENST00000429174.6:c.5215A>C	ENSP00000398305.2:p.Thr1739Pro
ENST00000479049.6:n.2037A>C
NM_001130455.1:c.5155A>C	NP_001123927.1:p.Thr1719Pro
NM_001130976.1:c.5110A>C	NP_001124448.1:p.Thr1704Pro
NM_001130977.1:c.5173A>C	NP_001124449.1:p.Thr1725Pro
NM_001130978.1:c.5215A>C	NP_001124450.1:p.Thr1739Pro
NM_001130979.1:c.5245A>C	NP_001124451.1:p.Thr1749Pro
NM_001130980.1:c.5203A>C	NP_001124452.1:p.Thr1735Pro
NM_001130981.1:c.5266A>C	NP_001124453.1:p.Thr1756Pro
NM_001130982.1:c.5248A>C	NP_001124454.1:p.Thr1750Pro
NM_001130983.1:c.5218A>C	NP_001124455.1:p.Thr1740Pro
NM_001130984.1:c.5176A>C	NP_001124456.1:p.Thr1726Pro
NM_001130985.1:c.5206A>C	NP_001124457.1:p.Thr1736Pro
NM_001130986.1:c.5113A>C	NP_001124458.1:p.Thr1705Pro
NM_001130987.1:c.5269A>C	NP_001124459.1:p.Thr1757Pro
NM_003494.3:c.5152A>C	NP_003485.1:p.Thr1718Pro
XM_005264584.3:c.5311A>C	XP_005264641.1:p.Thr1771Pro
XM_005264585.3:c.5308A>C	XP_005264642.1:p.Thr1770Pro
XM_005264584.4:c.5311A>C	XP_005264641.1:p.Thr1771Pro
XM_005264585.5:c.5308A>C	XP_005264642.1:p.Thr1770Pro
XR_001738969.1:n.5667A>C
NM_001130987.2:c.5269A>C MANE Select	NP_001124459.1:p.Thr1757Pro
NM_001130455.2:c.5155A>C	NP_001123927.1:p.Thr1719Pro
NM_001130976.2:c.5110A>C	NP_001124448.1:p.Thr1704Pro
NM_001130977.2:c.5173A>C	NP_001124449.1:p.Thr1725Pro
NM_001130978.2:c.5215A>C	NP_001124450.1:p.Thr1739Pro
NM_001130979.2:c.5245A>C	NP_001124451.1:p.Thr1749Pro
NM_001130980.2:c.5203A>C	NP_001124452.1:p.Thr1735Pro
NM_001130981.2:c.5266A>C	NP_001124453.1:p.Thr1756Pro
NM_001130982.2:c.5248A>C	NP_001124454.1:p.Thr1750Pro
NM_001130983.2:c.5218A>C	NP_001124455.1:p.Thr1740Pro
NM_001130984.2:c.5176A>C	NP_001124456.1:p.Thr1726Pro
NM_001130985.2:c.5206A>C	NP_001124457.1:p.Thr1736Pro
NM_001130986.2:c.5113A>C	NP_001124458.1:p.Thr1705Pro
NM_003494.4:c.5152A>C MANE Plus Clinical	NP_003485.1:p.Thr1718Pro