Canonical Allele Identifier: CA426705046

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913604G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686474G>T , CM000664.2:g.71686474G>T	GRCh38
NC_000002.11:g.71913604G>T , CM000664.1:g.71913604G>T	GRCh37
NC_000002.10:g.71767112G>T	NCBI36
NG_008694.1:g.237852G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3756G>T	ENSP00000513536.1:p.Leu1252=
ENST00000698058.1:c.2973G>T	ENSP00000513537.1:p.Leu991=
ENST00000698059.1:c.3081G>T	ENSP00000513538.1:p.Leu1027=
ENST00000258104.8:c.6225G>T MANE Plus Clinical	ENSP00000258104.3:p.Leu2075=
ENST00000410020.8:c.6342G>T MANE Select	ENSP00000386881.3:p.Leu2114=
ENST00000258104.7:c.6225G>T	ENSP00000258104.3:p.Leu2075=
ENST00000394120.6:c.6228G>T	ENSP00000377678.2:p.Leu2076=
ENST00000409366.5:c.6291G>T	ENSP00000386512.1:p.Leu2097=
ENST00000409582.7:c.6339G>T	ENSP00000386547.3:p.Leu2113=
ENST00000409651.5:c.6321G>T	ENSP00000386683.1:p.Leu2107=
ENST00000409744.5:c.6249G>T	ENSP00000386285.1:p.Leu2083=
ENST00000409762.5:c.6276G>T	ENSP00000387137.1:p.Leu2092=
ENST00000410020.7:c.6342G>T	ENSP00000386881.3:p.Leu2114=
ENST00000410041.1:c.6279G>T	ENSP00000386617.1:p.Leu2093=
ENST00000413539.6:c.6318G>T	ENSP00000407046.2:p.Leu2106=
ENST00000429174.6:c.6288G>T	ENSP00000398305.2:p.Leu2096=
ENST00000479049.6:n.3110G>T
NM_001130455.1:c.6228G>T	NP_001123927.1:p.Leu2076=
NM_001130976.1:c.6183G>T	NP_001124448.1:p.Leu2061=
NM_001130977.1:c.6246G>T	NP_001124449.1:p.Leu2082=
NM_001130978.1:c.6288G>T	NP_001124450.1:p.Leu2096=
NM_001130979.1:c.6318G>T	NP_001124451.1:p.Leu2106=
NM_001130980.1:c.6276G>T	NP_001124452.1:p.Leu2092=
NM_001130981.1:c.6339G>T	NP_001124453.1:p.Leu2113=
NM_001130982.1:c.6321G>T	NP_001124454.1:p.Leu2107=
NM_001130983.1:c.6291G>T	NP_001124455.1:p.Leu2097=
NM_001130984.1:c.6249G>T	NP_001124456.1:p.Leu2083=
NM_001130985.1:c.6279G>T	NP_001124457.1:p.Leu2093=
NM_001130986.1:c.6186G>T	NP_001124458.1:p.Leu2062=
NM_001130987.1:c.6342G>T	NP_001124459.1:p.Leu2114=
NM_003494.3:c.6225G>T	NP_003485.1:p.Leu2075=
XM_005264584.3:c.6384G>T	XP_005264641.1:p.Leu2128=
XM_005264585.3:c.6381G>T	XP_005264642.1:p.Leu2127=
XM_005264584.4:c.6384G>T	XP_005264641.1:p.Leu2128=
XM_005264585.5:c.6381G>T	XP_005264642.1:p.Leu2127=
NM_001130987.2:c.6342G>T MANE Select	NP_001124459.1:p.Leu2114=
NM_001130455.2:c.6228G>T	NP_001123927.1:p.Leu2076=
NM_001130976.2:c.6183G>T	NP_001124448.1:p.Leu2061=
NM_001130977.2:c.6246G>T	NP_001124449.1:p.Leu2082=
NM_001130978.2:c.6288G>T	NP_001124450.1:p.Leu2096=
NM_001130979.2:c.6318G>T	NP_001124451.1:p.Leu2106=
NM_001130980.2:c.6276G>T	NP_001124452.1:p.Leu2092=
NM_001130981.2:c.6339G>T	NP_001124453.1:p.Leu2113=
NM_001130982.2:c.6321G>T	NP_001124454.1:p.Leu2107=
NM_001130983.2:c.6291G>T	NP_001124455.1:p.Leu2097=
NM_001130984.2:c.6249G>T	NP_001124456.1:p.Leu2083=
NM_001130985.2:c.6279G>T	NP_001124457.1:p.Leu2093=
NM_001130986.2:c.6186G>T	NP_001124458.1:p.Leu2062=
NM_003494.4:c.6225G>T MANE Plus Clinical	NP_003485.1:p.Leu2075=