Canonical Allele Identifier: CA347228469

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71838635T>G (hg19) ; chr2:g.71611505T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611505T>G , CM000664.2:g.71611505T>G	GRCh38
NC_000002.11:g.71838635T>G , CM000664.1:g.71838635T>G	GRCh37
NC_000002.10:g.71692143T>G	NCBI36
NG_008694.1:g.162883T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1514T>G	ENSP00000513536.1:p.Leu505Arg
ENST00000698058.1:c.731T>G	ENSP00000513537.1:p.Leu244Arg
ENST00000698059.1:c.689T>G	ENSP00000513538.1:p.Leu230Arg
ENST00000258104.8:c.4046T>G MANE Plus Clinical	ENSP00000258104.3:p.Leu1349Arg
ENST00000410020.8:c.4100T>G MANE Select	ENSP00000386881.3:p.Leu1367Arg
ENST00000258104.7:c.4046T>G	ENSP00000258104.3:p.Leu1349Arg
ENST00000394120.6:c.4049T>G	ENSP00000377678.2:p.Leu1350Arg
ENST00000409366.5:c.4049T>G	ENSP00000386512.1:p.Leu1350Arg
ENST00000409582.7:c.4097T>G	ENSP00000386547.3:p.Leu1366Arg
ENST00000409651.5:c.4142T>G	ENSP00000386683.1:p.Leu1381Arg
ENST00000409744.5:c.4007T>G	ENSP00000386285.1:p.Leu1336Arg
ENST00000409762.5:c.4097T>G	ENSP00000387137.1:p.Leu1366Arg
ENST00000410020.7:c.4100T>G	ENSP00000386881.3:p.Leu1367Arg
ENST00000410041.1:c.4100T>G	ENSP00000386617.1:p.Leu1367Arg
ENST00000413539.6:c.4139T>G	ENSP00000407046.2:p.Leu1380Arg
ENST00000429174.6:c.4046T>G	ENSP00000398305.2:p.Leu1349Arg
ENST00000468173.1:n.282T>G
ENST00000472873.5:n.430T>G
ENST00000479049.6:n.931T>G
ENST00000487180.5:n.265T>G
ENST00000494501.5:n.366-22T>G
NM_001130455.1:c.4049T>G	NP_001123927.1:p.Leu1350Arg
NM_001130976.1:c.4004T>G	NP_001124448.1:p.Leu1335Arg
NM_001130977.1:c.4004T>G	NP_001124449.1:p.Leu1335Arg
NM_001130978.1:c.4046T>G	NP_001124450.1:p.Leu1349Arg
NM_001130979.1:c.4139T>G	NP_001124451.1:p.Leu1380Arg
NM_001130980.1:c.4097T>G	NP_001124452.1:p.Leu1366Arg
NM_001130981.1:c.4097T>G	NP_001124453.1:p.Leu1366Arg
NM_001130982.1:c.4142T>G	NP_001124454.1:p.Leu1381Arg
NM_001130983.1:c.4049T>G	NP_001124455.1:p.Leu1350Arg
NM_001130984.1:c.4007T>G	NP_001124456.1:p.Leu1336Arg
NM_001130985.1:c.4100T>G	NP_001124457.1:p.Leu1367Arg
NM_001130986.1:c.4007T>G	NP_001124458.1:p.Leu1336Arg
NM_001130987.1:c.4100T>G	NP_001124459.1:p.Leu1367Arg
NM_003494.3:c.4046T>G	NP_003485.1:p.Leu1349Arg
XM_005264584.3:c.4142T>G	XP_005264641.1:p.Leu1381Arg
XM_005264585.3:c.4139T>G	XP_005264642.1:p.Leu1380Arg
XM_005264584.4:c.4142T>G	XP_005264641.1:p.Leu1381Arg
XM_005264585.5:c.4139T>G	XP_005264642.1:p.Leu1380Arg
XR_001738969.1:n.4300T>G
NM_001130987.2:c.4100T>G MANE Select	NP_001124459.1:p.Leu1367Arg
NM_001130455.2:c.4049T>G	NP_001123927.1:p.Leu1350Arg
NM_001130976.2:c.4004T>G	NP_001124448.1:p.Leu1335Arg
NM_001130977.2:c.4004T>G	NP_001124449.1:p.Leu1335Arg
NM_001130978.2:c.4046T>G	NP_001124450.1:p.Leu1349Arg
NM_001130979.2:c.4139T>G	NP_001124451.1:p.Leu1380Arg
NM_001130980.2:c.4097T>G	NP_001124452.1:p.Leu1366Arg
NM_001130981.2:c.4097T>G	NP_001124453.1:p.Leu1366Arg
NM_001130982.2:c.4142T>G	NP_001124454.1:p.Leu1381Arg
NM_001130983.2:c.4049T>G	NP_001124455.1:p.Leu1350Arg
NM_001130984.2:c.4007T>G	NP_001124456.1:p.Leu1336Arg
NM_001130985.2:c.4100T>G	NP_001124457.1:p.Leu1367Arg
NM_001130986.2:c.4007T>G	NP_001124458.1:p.Leu1336Arg
NM_003494.4:c.4046T>G MANE Plus Clinical	NP_003485.1:p.Leu1349Arg