Canonical Allele Identifier: CA10604735

Gene: DYSF

Linked Data

• ClinVar Variation Id: 284252
• ClinVar RCV Id: RCV000316493 ; RCV001855139
• dbSNP Id: rs886042828
• MyVariant Identifiers: chr2:g.71827938T>G (hg19) ; chr2:g.71600808T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71600808T>G , CM000664.2:g.71600808T>G	GRCh38
NC_000002.11:g.71827938T>G , CM000664.1:g.71827938T>G	GRCh37
NC_000002.10:g.71681446T>G	NCBI36
NG_008694.1:g.152186T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1235T>G	ENSP00000513536.1:p.Leu412Arg
ENST00000698058.1:c.452T>G	ENSP00000513537.1:p.Leu151Arg
ENST00000698059.1:c.452T>G	ENSP00000513538.1:p.Leu151Arg
ENST00000258104.8:c.3809T>G MANE Plus Clinical	ENSP00000258104.3:p.Leu1270Arg
ENST00000410020.8:c.3863T>G MANE Select	ENSP00000386881.3:p.Leu1288Arg
ENST00000258104.7:c.3809T>G	ENSP00000258104.3:p.Leu1270Arg
ENST00000394120.6:c.3812T>G	ENSP00000377678.2:p.Leu1271Arg
ENST00000409366.5:c.3812T>G	ENSP00000386512.1:p.Leu1271Arg
ENST00000409582.7:c.3860T>G	ENSP00000386547.3:p.Leu1287Arg
ENST00000409651.5:c.3905T>G	ENSP00000386683.1:p.Leu1302Arg
ENST00000409744.5:c.3770T>G	ENSP00000386285.1:p.Leu1257Arg
ENST00000409762.5:c.3860T>G	ENSP00000387137.1:p.Leu1287Arg
ENST00000410020.7:c.3863T>G	ENSP00000386881.3:p.Leu1288Arg
ENST00000410041.1:c.3863T>G	ENSP00000386617.1:p.Leu1288Arg
ENST00000413539.6:c.3902T>G	ENSP00000407046.2:p.Leu1301Arg
ENST00000429174.6:c.3809T>G	ENSP00000398305.2:p.Leu1270Arg
ENST00000475076.5:n.637T>G
ENST00000479049.6:n.694T>G
ENST00000493767.1:n.530T>G
NM_001130455.1:c.3812T>G	NP_001123927.1:p.Leu1271Arg
NM_001130976.1:c.3767T>G	NP_001124448.1:p.Leu1256Arg
NM_001130977.1:c.3767T>G	NP_001124449.1:p.Leu1256Arg
NM_001130978.1:c.3809T>G	NP_001124450.1:p.Leu1270Arg
NM_001130979.1:c.3902T>G	NP_001124451.1:p.Leu1301Arg
NM_001130980.1:c.3860T>G	NP_001124452.1:p.Leu1287Arg
NM_001130981.1:c.3860T>G	NP_001124453.1:p.Leu1287Arg
NM_001130982.1:c.3905T>G	NP_001124454.1:p.Leu1302Arg
NM_001130983.1:c.3812T>G	NP_001124455.1:p.Leu1271Arg
NM_001130984.1:c.3770T>G	NP_001124456.1:p.Leu1257Arg
NM_001130985.1:c.3863T>G	NP_001124457.1:p.Leu1288Arg
NM_001130986.1:c.3770T>G	NP_001124458.1:p.Leu1257Arg
NM_001130987.1:c.3863T>G	NP_001124459.1:p.Leu1288Arg
NM_003494.3:c.3809T>G	NP_003485.1:p.Leu1270Arg
XM_005264584.3:c.3905T>G	XP_005264641.1:p.Leu1302Arg
XM_005264585.3:c.3902T>G	XP_005264642.1:p.Leu1301Arg
XM_005264584.4:c.3905T>G	XP_005264641.1:p.Leu1302Arg
XM_005264585.5:c.3902T>G	XP_005264642.1:p.Leu1301Arg
XR_001738969.1:n.4063T>G
NM_001130987.2:c.3863T>G MANE Select	NP_001124459.1:p.Leu1288Arg
NM_001130455.2:c.3812T>G	NP_001123927.1:p.Leu1271Arg
NM_001130976.2:c.3767T>G	NP_001124448.1:p.Leu1256Arg
NM_001130977.2:c.3767T>G	NP_001124449.1:p.Leu1256Arg
NM_001130978.2:c.3809T>G	NP_001124450.1:p.Leu1270Arg
NM_001130979.2:c.3902T>G	NP_001124451.1:p.Leu1301Arg
NM_001130980.2:c.3860T>G	NP_001124452.1:p.Leu1287Arg
NM_001130981.2:c.3860T>G	NP_001124453.1:p.Leu1287Arg
NM_001130982.2:c.3905T>G	NP_001124454.1:p.Leu1302Arg
NM_001130983.2:c.3812T>G	NP_001124455.1:p.Leu1271Arg
NM_001130984.2:c.3770T>G	NP_001124456.1:p.Leu1257Arg
NM_001130985.2:c.3863T>G	NP_001124457.1:p.Leu1288Arg
NM_001130986.2:c.3770T>G	NP_001124458.1:p.Leu1257Arg
NM_003494.4:c.3809T>G MANE Plus Clinical	NP_003485.1:p.Leu1270Arg