Canonical Allele Identifier: CA426705055

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913619C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686489C>T , CM000664.2:g.71686489C>T	GRCh38
NC_000002.11:g.71913619C>T , CM000664.1:g.71913619C>T	GRCh37
NC_000002.10:g.71767127C>T	NCBI36
NG_008694.1:g.237867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3771C>T	ENSP00000513536.1:p.Ser1257=
ENST00000698058.1:c.2988C>T	ENSP00000513537.1:p.Ser996=
ENST00000698059.1:c.3096C>T	ENSP00000513538.1:p.Ser1032=
ENST00000258104.8:c.6240C>T MANE Plus Clinical	ENSP00000258104.3:p.Ser2080=
ENST00000410020.8:c.6357C>T MANE Select	ENSP00000386881.3:p.Ser2119=
ENST00000258104.7:c.6240C>T	ENSP00000258104.3:p.Ser2080=
ENST00000394120.6:c.6243C>T	ENSP00000377678.2:p.Ser2081=
ENST00000409366.5:c.6306C>T	ENSP00000386512.1:p.Ser2102=
ENST00000409582.7:c.6354C>T	ENSP00000386547.3:p.Ser2118=
ENST00000409651.5:c.6336C>T	ENSP00000386683.1:p.Ser2112=
ENST00000409744.5:c.6264C>T	ENSP00000386285.1:p.Ser2088=
ENST00000409762.5:c.6291C>T	ENSP00000387137.1:p.Ser2097=
ENST00000410020.7:c.6357C>T	ENSP00000386881.3:p.Ser2119=
ENST00000410041.1:c.6294C>T	ENSP00000386617.1:p.Ser2098=
ENST00000413539.6:c.6333C>T	ENSP00000407046.2:p.Ser2111=
ENST00000429174.6:c.6303C>T	ENSP00000398305.2:p.Ser2101=
ENST00000479049.6:n.3125C>T
NM_001130455.1:c.6243C>T	NP_001123927.1:p.Ser2081=
NM_001130976.1:c.6198C>T	NP_001124448.1:p.Ser2066=
NM_001130977.1:c.6261C>T	NP_001124449.1:p.Ser2087=
NM_001130978.1:c.6303C>T	NP_001124450.1:p.Ser2101=
NM_001130979.1:c.6333C>T	NP_001124451.1:p.Ser2111=
NM_001130980.1:c.6291C>T	NP_001124452.1:p.Ser2097=
NM_001130981.1:c.6354C>T	NP_001124453.1:p.Ser2118=
NM_001130982.1:c.6336C>T	NP_001124454.1:p.Ser2112=
NM_001130983.1:c.6306C>T	NP_001124455.1:p.Ser2102=
NM_001130984.1:c.6264C>T	NP_001124456.1:p.Ser2088=
NM_001130985.1:c.6294C>T	NP_001124457.1:p.Ser2098=
NM_001130986.1:c.6201C>T	NP_001124458.1:p.Ser2067=
NM_001130987.1:c.6357C>T	NP_001124459.1:p.Ser2119=
NM_003494.3:c.6240C>T	NP_003485.1:p.Ser2080=
XM_005264584.3:c.6399C>T	XP_005264641.1:p.Ser2133=
XM_005264585.3:c.6396C>T	XP_005264642.1:p.Ser2132=
XM_005264584.4:c.6399C>T	XP_005264641.1:p.Ser2133=
XM_005264585.5:c.6396C>T	XP_005264642.1:p.Ser2132=
NM_001130987.2:c.6357C>T MANE Select	NP_001124459.1:p.Ser2119=
NM_001130455.2:c.6243C>T	NP_001123927.1:p.Ser2081=
NM_001130976.2:c.6198C>T	NP_001124448.1:p.Ser2066=
NM_001130977.2:c.6261C>T	NP_001124449.1:p.Ser2087=
NM_001130978.2:c.6303C>T	NP_001124450.1:p.Ser2101=
NM_001130979.2:c.6333C>T	NP_001124451.1:p.Ser2111=
NM_001130980.2:c.6291C>T	NP_001124452.1:p.Ser2097=
NM_001130981.2:c.6354C>T	NP_001124453.1:p.Ser2118=
NM_001130982.2:c.6336C>T	NP_001124454.1:p.Ser2112=
NM_001130983.2:c.6306C>T	NP_001124455.1:p.Ser2102=
NM_001130984.2:c.6264C>T	NP_001124456.1:p.Ser2088=
NM_001130985.2:c.6294C>T	NP_001124457.1:p.Ser2098=
NM_001130986.2:c.6201C>T	NP_001124458.1:p.Ser2067=
NM_003494.4:c.6240C>T MANE Plus Clinical	NP_003485.1:p.Ser2080=