Canonical Allele Identifier: CA347227844

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913584A>G (hg19) ; chr2:g.71686454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686454A>G , CM000664.2:g.71686454A>G	GRCh38
NC_000002.11:g.71913584A>G , CM000664.1:g.71913584A>G	GRCh37
NC_000002.10:g.71767092A>G	NCBI36
NG_008694.1:g.237832A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3736A>G	ENSP00000513536.1:p.Asn1246Asp
ENST00000698058.1:c.2953A>G	ENSP00000513537.1:p.Asn985Asp
ENST00000698059.1:c.3061A>G	ENSP00000513538.1:p.Asn1021Asp
ENST00000258104.8:c.6205A>G MANE Plus Clinical	ENSP00000258104.3:p.Asn2069Asp
ENST00000410020.8:c.6322A>G MANE Select	ENSP00000386881.3:p.Asn2108Asp
ENST00000258104.7:c.6205A>G	ENSP00000258104.3:p.Asn2069Asp
ENST00000394120.6:c.6208A>G	ENSP00000377678.2:p.Asn2070Asp
ENST00000409366.5:c.6271A>G	ENSP00000386512.1:p.Asn2091Asp
ENST00000409582.7:c.6319A>G	ENSP00000386547.3:p.Asn2107Asp
ENST00000409651.5:c.6301A>G	ENSP00000386683.1:p.Asn2101Asp
ENST00000409744.5:c.6229A>G	ENSP00000386285.1:p.Asn2077Asp
ENST00000409762.5:c.6256A>G	ENSP00000387137.1:p.Asn2086Asp
ENST00000410020.7:c.6322A>G	ENSP00000386881.3:p.Asn2108Asp
ENST00000410041.1:c.6259A>G	ENSP00000386617.1:p.Asn2087Asp
ENST00000413539.6:c.6298A>G	ENSP00000407046.2:p.Asn2100Asp
ENST00000429174.6:c.6268A>G	ENSP00000398305.2:p.Asn2090Asp
ENST00000479049.6:n.3090A>G
NM_001130455.1:c.6208A>G	NP_001123927.1:p.Asn2070Asp
NM_001130976.1:c.6163A>G	NP_001124448.1:p.Asn2055Asp
NM_001130977.1:c.6226A>G	NP_001124449.1:p.Asn2076Asp
NM_001130978.1:c.6268A>G	NP_001124450.1:p.Asn2090Asp
NM_001130979.1:c.6298A>G	NP_001124451.1:p.Asn2100Asp
NM_001130980.1:c.6256A>G	NP_001124452.1:p.Asn2086Asp
NM_001130981.1:c.6319A>G	NP_001124453.1:p.Asn2107Asp
NM_001130982.1:c.6301A>G	NP_001124454.1:p.Asn2101Asp
NM_001130983.1:c.6271A>G	NP_001124455.1:p.Asn2091Asp
NM_001130984.1:c.6229A>G	NP_001124456.1:p.Asn2077Asp
NM_001130985.1:c.6259A>G	NP_001124457.1:p.Asn2087Asp
NM_001130986.1:c.6166A>G	NP_001124458.1:p.Asn2056Asp
NM_001130987.1:c.6322A>G	NP_001124459.1:p.Asn2108Asp
NM_003494.3:c.6205A>G	NP_003485.1:p.Asn2069Asp
XM_005264584.3:c.6364A>G	XP_005264641.1:p.Asn2122Asp
XM_005264585.3:c.6361A>G	XP_005264642.1:p.Asn2121Asp
XM_005264584.4:c.6364A>G	XP_005264641.1:p.Asn2122Asp
XM_005264585.5:c.6361A>G	XP_005264642.1:p.Asn2121Asp
NM_001130987.2:c.6322A>G MANE Select	NP_001124459.1:p.Asn2108Asp
NM_001130455.2:c.6208A>G	NP_001123927.1:p.Asn2070Asp
NM_001130976.2:c.6163A>G	NP_001124448.1:p.Asn2055Asp
NM_001130977.2:c.6226A>G	NP_001124449.1:p.Asn2076Asp
NM_001130978.2:c.6268A>G	NP_001124450.1:p.Asn2090Asp
NM_001130979.2:c.6298A>G	NP_001124451.1:p.Asn2100Asp
NM_001130980.2:c.6256A>G	NP_001124452.1:p.Asn2086Asp
NM_001130981.2:c.6319A>G	NP_001124453.1:p.Asn2107Asp
NM_001130982.2:c.6301A>G	NP_001124454.1:p.Asn2101Asp
NM_001130983.2:c.6271A>G	NP_001124455.1:p.Asn2091Asp
NM_001130984.2:c.6229A>G	NP_001124456.1:p.Asn2077Asp
NM_001130985.2:c.6259A>G	NP_001124457.1:p.Asn2087Asp
NM_001130986.2:c.6166A>G	NP_001124458.1:p.Asn2056Asp
NM_003494.4:c.6205A>G MANE Plus Clinical	NP_003485.1:p.Asn2069Asp