Canonical Allele Identifier: CA347227888

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913603T>G (hg19) ; chr2:g.71686473T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686473T>G , CM000664.2:g.71686473T>G	GRCh38
NC_000002.11:g.71913603T>G , CM000664.1:g.71913603T>G	GRCh37
NC_000002.10:g.71767111T>G	NCBI36
NG_008694.1:g.237851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3755T>G	ENSP00000513536.1:p.Leu1252Arg
ENST00000698058.1:c.2972T>G	ENSP00000513537.1:p.Leu991Arg
ENST00000698059.1:c.3080T>G	ENSP00000513538.1:p.Leu1027Arg
ENST00000258104.8:c.6224T>G MANE Plus Clinical	ENSP00000258104.3:p.Leu2075Arg
ENST00000410020.8:c.6341T>G MANE Select	ENSP00000386881.3:p.Leu2114Arg
ENST00000258104.7:c.6224T>G	ENSP00000258104.3:p.Leu2075Arg
ENST00000394120.6:c.6227T>G	ENSP00000377678.2:p.Leu2076Arg
ENST00000409366.5:c.6290T>G	ENSP00000386512.1:p.Leu2097Arg
ENST00000409582.7:c.6338T>G	ENSP00000386547.3:p.Leu2113Arg
ENST00000409651.5:c.6320T>G	ENSP00000386683.1:p.Leu2107Arg
ENST00000409744.5:c.6248T>G	ENSP00000386285.1:p.Leu2083Arg
ENST00000409762.5:c.6275T>G	ENSP00000387137.1:p.Leu2092Arg
ENST00000410020.7:c.6341T>G	ENSP00000386881.3:p.Leu2114Arg
ENST00000410041.1:c.6278T>G	ENSP00000386617.1:p.Leu2093Arg
ENST00000413539.6:c.6317T>G	ENSP00000407046.2:p.Leu2106Arg
ENST00000429174.6:c.6287T>G	ENSP00000398305.2:p.Leu2096Arg
ENST00000479049.6:n.3109T>G
NM_001130455.1:c.6227T>G	NP_001123927.1:p.Leu2076Arg
NM_001130976.1:c.6182T>G	NP_001124448.1:p.Leu2061Arg
NM_001130977.1:c.6245T>G	NP_001124449.1:p.Leu2082Arg
NM_001130978.1:c.6287T>G	NP_001124450.1:p.Leu2096Arg
NM_001130979.1:c.6317T>G	NP_001124451.1:p.Leu2106Arg
NM_001130980.1:c.6275T>G	NP_001124452.1:p.Leu2092Arg
NM_001130981.1:c.6338T>G	NP_001124453.1:p.Leu2113Arg
NM_001130982.1:c.6320T>G	NP_001124454.1:p.Leu2107Arg
NM_001130983.1:c.6290T>G	NP_001124455.1:p.Leu2097Arg
NM_001130984.1:c.6248T>G	NP_001124456.1:p.Leu2083Arg
NM_001130985.1:c.6278T>G	NP_001124457.1:p.Leu2093Arg
NM_001130986.1:c.6185T>G	NP_001124458.1:p.Leu2062Arg
NM_001130987.1:c.6341T>G	NP_001124459.1:p.Leu2114Arg
NM_003494.3:c.6224T>G	NP_003485.1:p.Leu2075Arg
XM_005264584.3:c.6383T>G	XP_005264641.1:p.Leu2128Arg
XM_005264585.3:c.6380T>G	XP_005264642.1:p.Leu2127Arg
XM_005264584.4:c.6383T>G	XP_005264641.1:p.Leu2128Arg
XM_005264585.5:c.6380T>G	XP_005264642.1:p.Leu2127Arg
NM_001130987.2:c.6341T>G MANE Select	NP_001124459.1:p.Leu2114Arg
NM_001130455.2:c.6227T>G	NP_001123927.1:p.Leu2076Arg
NM_001130976.2:c.6182T>G	NP_001124448.1:p.Leu2061Arg
NM_001130977.2:c.6245T>G	NP_001124449.1:p.Leu2082Arg
NM_001130978.2:c.6287T>G	NP_001124450.1:p.Leu2096Arg
NM_001130979.2:c.6317T>G	NP_001124451.1:p.Leu2106Arg
NM_001130980.2:c.6275T>G	NP_001124452.1:p.Leu2092Arg
NM_001130981.2:c.6338T>G	NP_001124453.1:p.Leu2113Arg
NM_001130982.2:c.6320T>G	NP_001124454.1:p.Leu2107Arg
NM_001130983.2:c.6290T>G	NP_001124455.1:p.Leu2097Arg
NM_001130984.2:c.6248T>G	NP_001124456.1:p.Leu2083Arg
NM_001130985.2:c.6278T>G	NP_001124457.1:p.Leu2093Arg
NM_001130986.2:c.6185T>G	NP_001124458.1:p.Leu2062Arg
NM_003494.4:c.6224T>G MANE Plus Clinical	NP_003485.1:p.Leu2075Arg