Canonical Allele Identifier: CA233946

Gene: DYSF

Linked Data

• ClinVar Variation Id: 167030
• ClinVar RCV Id: RCV000407918 ; RCV000648019 ; RCV002469027 ; RCV003467212
• dbSNP Id: rs727503915
• MyVariant Identifiers: chr2:g.71896338G>A (hg19) ; chr2:g.71669208G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669208G>A , CM000664.2:g.71669208G>A	GRCh38
NC_000002.11:g.71896338G>A , CM000664.1:g.71896338G>A	GRCh37
NC_000002.10:g.71749846G>A	NCBI36
NG_008694.1:g.220586G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3056+1G>A	ENSP00000513536.1:n.3056+1G>A
ENST00000698058.1:c.2273+1G>A	ENSP00000513537.1:n.2273+1G>A
ENST00000698059.1:c.2381+1G>A	ENSP00000513538.1:n.2381+1G>A
ENST00000258104.8:c.5525+1G>A MANE Plus Clinical	ENSP00000258104.3:n.5525+1G>A
ENST00000410020.8:c.5642+1G>A MANE Select	ENSP00000386881.3:n.5642+1G>A
ENST00000258104.7:c.5525+1G>A	ENSP00000258104.3:n.5525+1G>A
ENST00000394120.6:c.5528+1G>A	ENSP00000377678.2:n.5528+1G>A
ENST00000409366.5:c.5591+1G>A	ENSP00000386512.1:n.5591+1G>A
ENST00000409582.7:c.5639+1G>A	ENSP00000386547.3:n.5639+1G>A
ENST00000409651.5:c.5621+1G>A	ENSP00000386683.1:n.5621+1G>A
ENST00000409744.5:c.5549+1G>A	ENSP00000386285.1:n.5549+1G>A
ENST00000409762.5:c.5576+1G>A	ENSP00000387137.1:n.5576+1G>A
ENST00000410020.7:c.5642+1G>A	ENSP00000386881.3:n.5642+1G>A
ENST00000410041.1:c.5579+1G>A	ENSP00000386617.1:n.5579+1G>A
ENST00000413539.6:c.5618+1G>A	ENSP00000407046.2:n.5618+1G>A
ENST00000429174.6:c.5588+1G>A	ENSP00000398305.2:n.5588+1G>A
ENST00000479049.6:n.2410+1G>A
NM_001130455.1:c.5528+1G>A	NP_001123927.1:n.5528+1G>A
NM_001130976.1:c.5483+1G>A	NP_001124448.1:n.5483+1G>A
NM_001130977.1:c.5546+1G>A	NP_001124449.1:n.5546+1G>A
NM_001130978.1:c.5588+1G>A	NP_001124450.1:n.5588+1G>A
NM_001130979.1:c.5618+1G>A	NP_001124451.1:n.5618+1G>A
NM_001130980.1:c.5576+1G>A	NP_001124452.1:n.5576+1G>A
NM_001130981.1:c.5639+1G>A	NP_001124453.1:n.5639+1G>A
NM_001130982.1:c.5621+1G>A	NP_001124454.1:n.5621+1G>A
NM_001130983.1:c.5591+1G>A	NP_001124455.1:n.5591+1G>A
NM_001130984.1:c.5549+1G>A	NP_001124456.1:n.5549+1G>A
NM_001130985.1:c.5579+1G>A	NP_001124457.1:n.5579+1G>A
NM_001130986.1:c.5486+1G>A	NP_001124458.1:n.5486+1G>A
NM_001130987.1:c.5642+1G>A	NP_001124459.1:n.5642+1G>A
NM_003494.3:c.5525+1G>A	NP_003485.1:n.5525+1G>A
XM_005264584.3:c.5684+1G>A	XP_005264641.1:n.5684+1G>A
XM_005264585.3:c.5681+1G>A	XP_005264642.1:n.5681+1G>A
XM_005264584.4:c.5684+1G>A	XP_005264641.1:n.5684+1G>A
XM_005264585.5:c.5681+1G>A	XP_005264642.1:n.5681+1G>A
NM_001130987.2:c.5642+1G>A MANE Select	NP_001124459.1:n.5642+1G>A
NM_001130455.2:c.5528+1G>A	NP_001123927.1:n.5528+1G>A
NM_001130976.2:c.5483+1G>A	NP_001124448.1:n.5483+1G>A
NM_001130977.2:c.5546+1G>A	NP_001124449.1:n.5546+1G>A
NM_001130978.2:c.5588+1G>A	NP_001124450.1:n.5588+1G>A
NM_001130979.2:c.5618+1G>A	NP_001124451.1:n.5618+1G>A
NM_001130980.2:c.5576+1G>A	NP_001124452.1:n.5576+1G>A
NM_001130981.2:c.5639+1G>A	NP_001124453.1:n.5639+1G>A
NM_001130982.2:c.5621+1G>A	NP_001124454.1:n.5621+1G>A
NM_001130983.2:c.5591+1G>A	NP_001124455.1:n.5591+1G>A
NM_001130984.2:c.5549+1G>A	NP_001124456.1:n.5549+1G>A
NM_001130985.2:c.5579+1G>A	NP_001124457.1:n.5579+1G>A
NM_001130986.2:c.5486+1G>A	NP_001124458.1:n.5486+1G>A
NM_003494.4:c.5525+1G>A MANE Plus Clinical	NP_003485.1:n.5525+1G>A