Canonical Allele Identifier: CA1706448

Gene: DYSF

Linked Data

• ClinVar Variation Id: 242418
• ClinVar RCV Id: RCV000493116 ; RCV000555598 ; RCV000596380 ; RCV001196058 ; RCV003469174
• dbSNP Id: rs150877497
• ExAC: 2:71797810 G / A
• gnomAD v2: 2-71797810-G-A
• gnomAD v3: 2-71570680-G-A
• gnomAD v4: 2-71570680-G-A
• COSMIC: COSM3582996 ; COSM3582997
• MyVariant Identifiers: chr2:g.71797810G>A (hg19) ; chr2:g.71570680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570680G>A , CM000664.2:g.71570680G>A	GRCh38
NC_000002.11:g.71797810G>A , CM000664.1:g.71797810G>A	GRCh37
NC_000002.10:g.71651318G>A	NCBI36
NG_008694.1:g.122058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.539G>A	ENSP00000513536.1:p.Arg180Gln
ENST00000258104.8:c.3113G>A MANE Plus Clinical	ENSP00000258104.3:p.Arg1038Gln
ENST00000410020.8:c.3167G>A MANE Select	ENSP00000386881.3:p.Arg1056Gln
ENST00000258104.7:c.3113G>A	ENSP00000258104.3:p.Arg1038Gln
ENST00000394120.6:c.3116G>A	ENSP00000377678.2:p.Arg1039Gln
ENST00000409366.5:c.3116G>A	ENSP00000386512.1:p.Arg1039Gln
ENST00000409582.7:c.3164G>A	ENSP00000386547.3:p.Arg1055Gln
ENST00000409651.5:c.3209G>A	ENSP00000386683.1:p.Arg1070Gln
ENST00000409744.5:c.3074G>A	ENSP00000386285.1:p.Arg1025Gln
ENST00000409762.5:c.3164G>A	ENSP00000387137.1:p.Arg1055Gln
ENST00000410020.7:c.3167G>A	ENSP00000386881.3:p.Arg1056Gln
ENST00000410041.1:c.3167G>A	ENSP00000386617.1:p.Arg1056Gln
ENST00000413539.6:c.3206G>A	ENSP00000407046.2:p.Arg1069Gln
ENST00000429174.6:c.3113G>A	ENSP00000398305.2:p.Arg1038Gln
ENST00000461565.1:n.279G>A
NM_001130455.1:c.3116G>A	NP_001123927.1:p.Arg1039Gln
NM_001130976.1:c.3071G>A	NP_001124448.1:p.Arg1024Gln
NM_001130977.1:c.3071G>A	NP_001124449.1:p.Arg1024Gln
NM_001130978.1:c.3113G>A	NP_001124450.1:p.Arg1038Gln
NM_001130979.1:c.3206G>A	NP_001124451.1:p.Arg1069Gln
NM_001130980.1:c.3164G>A	NP_001124452.1:p.Arg1055Gln
NM_001130981.1:c.3164G>A	NP_001124453.1:p.Arg1055Gln
NM_001130982.1:c.3209G>A	NP_001124454.1:p.Arg1070Gln
NM_001130983.1:c.3116G>A	NP_001124455.1:p.Arg1039Gln
NM_001130984.1:c.3074G>A	NP_001124456.1:p.Arg1025Gln
NM_001130985.1:c.3167G>A	NP_001124457.1:p.Arg1056Gln
NM_001130986.1:c.3074G>A	NP_001124458.1:p.Arg1025Gln
NM_001130987.1:c.3167G>A	NP_001124459.1:p.Arg1056Gln
NM_003494.3:c.3113G>A	NP_003485.1:p.Arg1038Gln
XM_005264584.3:c.3209G>A	XP_005264641.1:p.Arg1070Gln
XM_005264585.3:c.3206G>A	XP_005264642.1:p.Arg1069Gln
XM_005264584.4:c.3209G>A	XP_005264641.1:p.Arg1070Gln
XM_005264585.5:c.3206G>A	XP_005264642.1:p.Arg1069Gln
XR_001738969.1:n.3367G>A
NM_001130987.2:c.3167G>A MANE Select	NP_001124459.1:p.Arg1056Gln
NM_001130455.2:c.3116G>A	NP_001123927.1:p.Arg1039Gln
NM_001130976.2:c.3071G>A	NP_001124448.1:p.Arg1024Gln
NM_001130977.2:c.3071G>A	NP_001124449.1:p.Arg1024Gln
NM_001130978.2:c.3113G>A	NP_001124450.1:p.Arg1038Gln
NM_001130979.2:c.3206G>A	NP_001124451.1:p.Arg1069Gln
NM_001130980.2:c.3164G>A	NP_001124452.1:p.Arg1055Gln
NM_001130981.2:c.3164G>A	NP_001124453.1:p.Arg1055Gln
NM_001130982.2:c.3209G>A	NP_001124454.1:p.Arg1070Gln
NM_001130983.2:c.3116G>A	NP_001124455.1:p.Arg1039Gln
NM_001130984.2:c.3074G>A	NP_001124456.1:p.Arg1025Gln
NM_001130985.2:c.3167G>A	NP_001124457.1:p.Arg1056Gln
NM_001130986.2:c.3074G>A	NP_001124458.1:p.Arg1025Gln
NM_003494.4:c.3113G>A MANE Plus Clinical	NP_003485.1:p.Arg1038Gln