Canonical Allele Identifier: CA347227879

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913599A>G (hg19) ; chr2:g.71686469A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686469A>G , CM000664.2:g.71686469A>G	GRCh38
NC_000002.11:g.71913599A>G , CM000664.1:g.71913599A>G	GRCh37
NC_000002.10:g.71767107A>G	NCBI36
NG_008694.1:g.237847A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3751A>G	ENSP00000513536.1:p.Lys1251Glu
ENST00000698058.1:c.2968A>G	ENSP00000513537.1:p.Lys990Glu
ENST00000698059.1:c.3076A>G	ENSP00000513538.1:p.Lys1026Glu
ENST00000258104.8:c.6220A>G MANE Plus Clinical	ENSP00000258104.3:p.Lys2074Glu
ENST00000410020.8:c.6337A>G MANE Select	ENSP00000386881.3:p.Lys2113Glu
ENST00000258104.7:c.6220A>G	ENSP00000258104.3:p.Lys2074Glu
ENST00000394120.6:c.6223A>G	ENSP00000377678.2:p.Lys2075Glu
ENST00000409366.5:c.6286A>G	ENSP00000386512.1:p.Lys2096Glu
ENST00000409582.7:c.6334A>G	ENSP00000386547.3:p.Lys2112Glu
ENST00000409651.5:c.6316A>G	ENSP00000386683.1:p.Lys2106Glu
ENST00000409744.5:c.6244A>G	ENSP00000386285.1:p.Lys2082Glu
ENST00000409762.5:c.6271A>G	ENSP00000387137.1:p.Lys2091Glu
ENST00000410020.7:c.6337A>G	ENSP00000386881.3:p.Lys2113Glu
ENST00000410041.1:c.6274A>G	ENSP00000386617.1:p.Lys2092Glu
ENST00000413539.6:c.6313A>G	ENSP00000407046.2:p.Lys2105Glu
ENST00000429174.6:c.6283A>G	ENSP00000398305.2:p.Lys2095Glu
ENST00000479049.6:n.3105A>G
NM_001130455.1:c.6223A>G	NP_001123927.1:p.Lys2075Glu
NM_001130976.1:c.6178A>G	NP_001124448.1:p.Lys2060Glu
NM_001130977.1:c.6241A>G	NP_001124449.1:p.Lys2081Glu
NM_001130978.1:c.6283A>G	NP_001124450.1:p.Lys2095Glu
NM_001130979.1:c.6313A>G	NP_001124451.1:p.Lys2105Glu
NM_001130980.1:c.6271A>G	NP_001124452.1:p.Lys2091Glu
NM_001130981.1:c.6334A>G	NP_001124453.1:p.Lys2112Glu
NM_001130982.1:c.6316A>G	NP_001124454.1:p.Lys2106Glu
NM_001130983.1:c.6286A>G	NP_001124455.1:p.Lys2096Glu
NM_001130984.1:c.6244A>G	NP_001124456.1:p.Lys2082Glu
NM_001130985.1:c.6274A>G	NP_001124457.1:p.Lys2092Glu
NM_001130986.1:c.6181A>G	NP_001124458.1:p.Lys2061Glu
NM_001130987.1:c.6337A>G	NP_001124459.1:p.Lys2113Glu
NM_003494.3:c.6220A>G	NP_003485.1:p.Lys2074Glu
XM_005264584.3:c.6379A>G	XP_005264641.1:p.Lys2127Glu
XM_005264585.3:c.6376A>G	XP_005264642.1:p.Lys2126Glu
XM_005264584.4:c.6379A>G	XP_005264641.1:p.Lys2127Glu
XM_005264585.5:c.6376A>G	XP_005264642.1:p.Lys2126Glu
NM_001130987.2:c.6337A>G MANE Select	NP_001124459.1:p.Lys2113Glu
NM_001130455.2:c.6223A>G	NP_001123927.1:p.Lys2075Glu
NM_001130976.2:c.6178A>G	NP_001124448.1:p.Lys2060Glu
NM_001130977.2:c.6241A>G	NP_001124449.1:p.Lys2081Glu
NM_001130978.2:c.6283A>G	NP_001124450.1:p.Lys2095Glu
NM_001130979.2:c.6313A>G	NP_001124451.1:p.Lys2105Glu
NM_001130980.2:c.6271A>G	NP_001124452.1:p.Lys2091Glu
NM_001130981.2:c.6334A>G	NP_001124453.1:p.Lys2112Glu
NM_001130982.2:c.6316A>G	NP_001124454.1:p.Lys2106Glu
NM_001130983.2:c.6286A>G	NP_001124455.1:p.Lys2096Glu
NM_001130984.2:c.6244A>G	NP_001124456.1:p.Lys2082Glu
NM_001130985.2:c.6274A>G	NP_001124457.1:p.Lys2092Glu
NM_001130986.2:c.6181A>G	NP_001124458.1:p.Lys2061Glu
NM_003494.4:c.6220A>G MANE Plus Clinical	NP_003485.1:p.Lys2074Glu