Canonical Allele Identifier: CA1707553

Gene: DYSF

Linked Data

• ClinVar Variation Id: 647886
• ClinVar RCV Id: RCV000802505 ; RCV001274110
• dbSNP Id: rs759198745
• ExAC: 2:71906234 G / A
• gnomAD v2: 2-71906234-G-A
• gnomAD v3: 2-71679104-G-A
• gnomAD v4: 2-71679104-G-A
• MyVariant Identifiers: chr2:g.71906234G>A (hg19) ; chr2:g.71679104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679104G>A , CM000664.2:g.71679104G>A	GRCh38
NC_000002.11:g.71906234G>A , CM000664.1:g.71906234G>A	GRCh37
NC_000002.10:g.71759742G>A	NCBI36
NG_008694.1:g.230482G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3346G>A	ENSP00000513536.1:p.Ala1116Thr
ENST00000698058.1:c.2563G>A	ENSP00000513537.1:p.Ala855Thr
ENST00000698059.1:c.2671G>A	ENSP00000513538.1:p.Ala891Thr
ENST00000258104.8:c.5815G>A MANE Plus Clinical	ENSP00000258104.3:p.Ala1939Thr
ENST00000410020.8:c.5932G>A MANE Select	ENSP00000386881.3:p.Ala1978Thr
ENST00000258104.7:c.5815G>A	ENSP00000258104.3:p.Ala1939Thr
ENST00000394120.6:c.5818G>A	ENSP00000377678.2:p.Ala1940Thr
ENST00000409366.5:c.5881G>A	ENSP00000386512.1:p.Ala1961Thr
ENST00000409582.7:c.5929G>A	ENSP00000386547.3:p.Ala1977Thr
ENST00000409651.5:c.5911G>A	ENSP00000386683.1:p.Ala1971Thr
ENST00000409744.5:c.5839G>A	ENSP00000386285.1:p.Ala1947Thr
ENST00000409762.5:c.5866G>A	ENSP00000387137.1:p.Ala1956Thr
ENST00000410020.7:c.5932G>A	ENSP00000386881.3:p.Ala1978Thr
ENST00000410041.1:c.5869G>A	ENSP00000386617.1:p.Ala1957Thr
ENST00000413539.6:c.5908G>A	ENSP00000407046.2:p.Ala1970Thr
ENST00000429174.6:c.5878G>A	ENSP00000398305.2:p.Ala1960Thr
ENST00000479049.6:n.2700G>A
NM_001130455.1:c.5818G>A	NP_001123927.1:p.Ala1940Thr
NM_001130976.1:c.5773G>A	NP_001124448.1:p.Ala1925Thr
NM_001130977.1:c.5836G>A	NP_001124449.1:p.Ala1946Thr
NM_001130978.1:c.5878G>A	NP_001124450.1:p.Ala1960Thr
NM_001130979.1:c.5908G>A	NP_001124451.1:p.Ala1970Thr
NM_001130980.1:c.5866G>A	NP_001124452.1:p.Ala1956Thr
NM_001130981.1:c.5929G>A	NP_001124453.1:p.Ala1977Thr
NM_001130982.1:c.5911G>A	NP_001124454.1:p.Ala1971Thr
NM_001130983.1:c.5881G>A	NP_001124455.1:p.Ala1961Thr
NM_001130984.1:c.5839G>A	NP_001124456.1:p.Ala1947Thr
NM_001130985.1:c.5869G>A	NP_001124457.1:p.Ala1957Thr
NM_001130986.1:c.5776G>A	NP_001124458.1:p.Ala1926Thr
NM_001130987.1:c.5932G>A	NP_001124459.1:p.Ala1978Thr
NM_003494.3:c.5815G>A	NP_003485.1:p.Ala1939Thr
XM_005264584.3:c.5974G>A	XP_005264641.1:p.Ala1992Thr
XM_005264585.3:c.5971G>A	XP_005264642.1:p.Ala1991Thr
XM_005264584.4:c.5974G>A	XP_005264641.1:p.Ala1992Thr
XM_005264585.5:c.5971G>A	XP_005264642.1:p.Ala1991Thr
NM_001130987.2:c.5932G>A MANE Select	NP_001124459.1:p.Ala1978Thr
NM_001130455.2:c.5818G>A	NP_001123927.1:p.Ala1940Thr
NM_001130976.2:c.5773G>A	NP_001124448.1:p.Ala1925Thr
NM_001130977.2:c.5836G>A	NP_001124449.1:p.Ala1946Thr
NM_001130978.2:c.5878G>A	NP_001124450.1:p.Ala1960Thr
NM_001130979.2:c.5908G>A	NP_001124451.1:p.Ala1970Thr
NM_001130980.2:c.5866G>A	NP_001124452.1:p.Ala1956Thr
NM_001130981.2:c.5929G>A	NP_001124453.1:p.Ala1977Thr
NM_001130982.2:c.5911G>A	NP_001124454.1:p.Ala1971Thr
NM_001130983.2:c.5881G>A	NP_001124455.1:p.Ala1961Thr
NM_001130984.2:c.5839G>A	NP_001124456.1:p.Ala1947Thr
NM_001130985.2:c.5869G>A	NP_001124457.1:p.Ala1957Thr
NM_001130986.2:c.5776G>A	NP_001124458.1:p.Ala1926Thr
NM_003494.4:c.5815G>A MANE Plus Clinical	NP_003485.1:p.Ala1939Thr