Canonical Allele Identifier: CA10606158

Gene: DYSF

Linked Data

• ClinVar Variation Id: 288619
• ClinVar RCV Id: RCV000406225 ; RCV001495071
• dbSNP Id: rs886043955
• gnomAD v4: 2-71679106-C-A
• MyVariant Identifiers: chr2:g.71906236C>A (hg19) ; chr2:g.71679106C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679106C>A , CM000664.2:g.71679106C>A	GRCh38
NC_000002.11:g.71906236C>A , CM000664.1:g.71906236C>A	GRCh37
NC_000002.10:g.71759744C>A	NCBI36
NG_008694.1:g.230484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3348C>A	ENSP00000513536.1:p.Ala1116=
ENST00000698058.1:c.2565C>A	ENSP00000513537.1:p.Ala855=
ENST00000698059.1:c.2673C>A	ENSP00000513538.1:p.Ala891=
ENST00000258104.8:c.5817C>A MANE Plus Clinical	ENSP00000258104.3:p.Ala1939=
ENST00000410020.8:c.5934C>A MANE Select	ENSP00000386881.3:p.Ala1978=
ENST00000258104.7:c.5817C>A	ENSP00000258104.3:p.Ala1939=
ENST00000394120.6:c.5820C>A	ENSP00000377678.2:p.Ala1940=
ENST00000409366.5:c.5883C>A	ENSP00000386512.1:p.Ala1961=
ENST00000409582.7:c.5931C>A	ENSP00000386547.3:p.Ala1977=
ENST00000409651.5:c.5913C>A	ENSP00000386683.1:p.Ala1971=
ENST00000409744.5:c.5841C>A	ENSP00000386285.1:p.Ala1947=
ENST00000409762.5:c.5868C>A	ENSP00000387137.1:p.Ala1956=
ENST00000410020.7:c.5934C>A	ENSP00000386881.3:p.Ala1978=
ENST00000410041.1:c.5871C>A	ENSP00000386617.1:p.Ala1957=
ENST00000413539.6:c.5910C>A	ENSP00000407046.2:p.Ala1970=
ENST00000429174.6:c.5880C>A	ENSP00000398305.2:p.Ala1960=
ENST00000479049.6:n.2702C>A
NM_001130455.1:c.5820C>A	NP_001123927.1:p.Ala1940=
NM_001130976.1:c.5775C>A	NP_001124448.1:p.Ala1925=
NM_001130977.1:c.5838C>A	NP_001124449.1:p.Ala1946=
NM_001130978.1:c.5880C>A	NP_001124450.1:p.Ala1960=
NM_001130979.1:c.5910C>A	NP_001124451.1:p.Ala1970=
NM_001130980.1:c.5868C>A	NP_001124452.1:p.Ala1956=
NM_001130981.1:c.5931C>A	NP_001124453.1:p.Ala1977=
NM_001130982.1:c.5913C>A	NP_001124454.1:p.Ala1971=
NM_001130983.1:c.5883C>A	NP_001124455.1:p.Ala1961=
NM_001130984.1:c.5841C>A	NP_001124456.1:p.Ala1947=
NM_001130985.1:c.5871C>A	NP_001124457.1:p.Ala1957=
NM_001130986.1:c.5778C>A	NP_001124458.1:p.Ala1926=
NM_001130987.1:c.5934C>A	NP_001124459.1:p.Ala1978=
NM_003494.3:c.5817C>A	NP_003485.1:p.Ala1939=
XM_005264584.3:c.5976C>A	XP_005264641.1:p.Ala1992=
XM_005264585.3:c.5973C>A	XP_005264642.1:p.Ala1991=
XM_005264584.4:c.5976C>A	XP_005264641.1:p.Ala1992=
XM_005264585.5:c.5973C>A	XP_005264642.1:p.Ala1991=
NM_001130987.2:c.5934C>A MANE Select	NP_001124459.1:p.Ala1978=
NM_001130455.2:c.5820C>A	NP_001123927.1:p.Ala1940=
NM_001130976.2:c.5775C>A	NP_001124448.1:p.Ala1925=
NM_001130977.2:c.5838C>A	NP_001124449.1:p.Ala1946=
NM_001130978.2:c.5880C>A	NP_001124450.1:p.Ala1960=
NM_001130979.2:c.5910C>A	NP_001124451.1:p.Ala1970=
NM_001130980.2:c.5868C>A	NP_001124452.1:p.Ala1956=
NM_001130981.2:c.5931C>A	NP_001124453.1:p.Ala1977=
NM_001130982.2:c.5913C>A	NP_001124454.1:p.Ala1971=
NM_001130983.2:c.5883C>A	NP_001124455.1:p.Ala1961=
NM_001130984.2:c.5841C>A	NP_001124456.1:p.Ala1947=
NM_001130985.2:c.5871C>A	NP_001124457.1:p.Ala1957=
NM_001130986.2:c.5778C>A	NP_001124458.1:p.Ala1926=
NM_003494.4:c.5817C>A MANE Plus Clinical	NP_003485.1:p.Ala1939=