Canonical Allele Identifier: CA1706803

Gene: DYSF

Linked Data

• ClinVar Variation Id: 852049
• ClinVar RCV Id: RCV001056589 ; RCV001272841 ; RCV003145310
• dbSNP Id: rs535831045
• ExAC: 2:71829921 A / G
• gnomAD v2: 2-71829921-A-G
• gnomAD v3: 2-71602791-A-G
• gnomAD v4: 2-71602791-A-G
• MyVariant Identifiers: chr2:g.71829921A>G (hg19) ; chr2:g.71602791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71602791A>G , CM000664.2:g.71602791A>G	GRCh38
NC_000002.11:g.71829921A>G , CM000664.1:g.71829921A>G	GRCh37
NC_000002.10:g.71683429A>G	NCBI36
NG_008694.1:g.154169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1315A>G	ENSP00000513536.1:p.Arg439Gly
ENST00000698058.1:c.532A>G	ENSP00000513537.1:p.Arg178Gly
ENST00000698059.1:c.532A>G	ENSP00000513538.1:p.Arg178Gly
ENST00000258104.8:c.3889A>G MANE Plus Clinical	ENSP00000258104.3:p.Arg1297Gly
ENST00000410020.8:c.3943A>G MANE Select	ENSP00000386881.3:p.Arg1315Gly
ENST00000258104.7:c.3889A>G	ENSP00000258104.3:p.Arg1297Gly
ENST00000394120.6:c.3892A>G	ENSP00000377678.2:p.Arg1298Gly
ENST00000409366.5:c.3892A>G	ENSP00000386512.1:p.Arg1298Gly
ENST00000409582.7:c.3940A>G	ENSP00000386547.3:p.Arg1314Gly
ENST00000409651.5:c.3985A>G	ENSP00000386683.1:p.Arg1329Gly
ENST00000409744.5:c.3850A>G	ENSP00000386285.1:p.Arg1284Gly
ENST00000409762.5:c.3940A>G	ENSP00000387137.1:p.Arg1314Gly
ENST00000410020.7:c.3943A>G	ENSP00000386881.3:p.Arg1315Gly
ENST00000410041.1:c.3943A>G	ENSP00000386617.1:p.Arg1315Gly
ENST00000413539.6:c.3982A>G	ENSP00000407046.2:p.Arg1328Gly
ENST00000429174.6:c.3889A>G	ENSP00000398305.2:p.Arg1297Gly
ENST00000472873.5:n.273A>G
ENST00000479049.6:n.774A>G
ENST00000487180.5:n.108A>G
ENST00000494501.5:n.249A>G
NM_001130455.1:c.3892A>G	NP_001123927.1:p.Arg1298Gly
NM_001130976.1:c.3847A>G	NP_001124448.1:p.Arg1283Gly
NM_001130977.1:c.3847A>G	NP_001124449.1:p.Arg1283Gly
NM_001130978.1:c.3889A>G	NP_001124450.1:p.Arg1297Gly
NM_001130979.1:c.3982A>G	NP_001124451.1:p.Arg1328Gly
NM_001130980.1:c.3940A>G	NP_001124452.1:p.Arg1314Gly
NM_001130981.1:c.3940A>G	NP_001124453.1:p.Arg1314Gly
NM_001130982.1:c.3985A>G	NP_001124454.1:p.Arg1329Gly
NM_001130983.1:c.3892A>G	NP_001124455.1:p.Arg1298Gly
NM_001130984.1:c.3850A>G	NP_001124456.1:p.Arg1284Gly
NM_001130985.1:c.3943A>G	NP_001124457.1:p.Arg1315Gly
NM_001130986.1:c.3850A>G	NP_001124458.1:p.Arg1284Gly
NM_001130987.1:c.3943A>G	NP_001124459.1:p.Arg1315Gly
NM_003494.3:c.3889A>G	NP_003485.1:p.Arg1297Gly
XM_005264584.3:c.3985A>G	XP_005264641.1:p.Arg1329Gly
XM_005264585.3:c.3982A>G	XP_005264642.1:p.Arg1328Gly
XM_005264584.4:c.3985A>G	XP_005264641.1:p.Arg1329Gly
XM_005264585.5:c.3982A>G	XP_005264642.1:p.Arg1328Gly
XR_001738969.1:n.4143A>G
NM_001130987.2:c.3943A>G MANE Select	NP_001124459.1:p.Arg1315Gly
NM_001130455.2:c.3892A>G	NP_001123927.1:p.Arg1298Gly
NM_001130976.2:c.3847A>G	NP_001124448.1:p.Arg1283Gly
NM_001130977.2:c.3847A>G	NP_001124449.1:p.Arg1283Gly
NM_001130978.2:c.3889A>G	NP_001124450.1:p.Arg1297Gly
NM_001130979.2:c.3982A>G	NP_001124451.1:p.Arg1328Gly
NM_001130980.2:c.3940A>G	NP_001124452.1:p.Arg1314Gly
NM_001130981.2:c.3940A>G	NP_001124453.1:p.Arg1314Gly
NM_001130982.2:c.3985A>G	NP_001124454.1:p.Arg1329Gly
NM_001130983.2:c.3892A>G	NP_001124455.1:p.Arg1298Gly
NM_001130984.2:c.3850A>G	NP_001124456.1:p.Arg1284Gly
NM_001130985.2:c.3943A>G	NP_001124457.1:p.Arg1315Gly
NM_001130986.2:c.3850A>G	NP_001124458.1:p.Arg1284Gly
NM_003494.4:c.3889A>G MANE Plus Clinical	NP_003485.1:p.Arg1297Gly