Canonical Allele Identifier: CA347224126

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896861T>A (hg19) ; chr2:g.71669731T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669731T>A , CM000664.2:g.71669731T>A	GRCh38
NC_000002.11:g.71896861T>A , CM000664.1:g.71896861T>A	GRCh37
NC_000002.10:g.71750369T>A	NCBI36
NG_008694.1:g.221109T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3183T>A	ENSP00000513536.1:p.Cys1061Ter
ENST00000698058.1:c.2400T>A	ENSP00000513537.1:p.Cys800Ter
ENST00000698059.1:c.2508T>A	ENSP00000513538.1:p.Cys836Ter
ENST00000258104.8:c.5652T>A MANE Plus Clinical	ENSP00000258104.3:p.Cys1884Ter
ENST00000410020.8:c.5769T>A MANE Select	ENSP00000386881.3:p.Cys1923Ter
ENST00000258104.7:c.5652T>A	ENSP00000258104.3:p.Cys1884Ter
ENST00000394120.6:c.5655T>A	ENSP00000377678.2:p.Cys1885Ter
ENST00000409366.5:c.5718T>A	ENSP00000386512.1:p.Cys1906Ter
ENST00000409582.7:c.5766T>A	ENSP00000386547.3:p.Cys1922Ter
ENST00000409651.5:c.5748T>A	ENSP00000386683.1:p.Cys1916Ter
ENST00000409744.5:c.5676T>A	ENSP00000386285.1:p.Cys1892Ter
ENST00000409762.5:c.5703T>A	ENSP00000387137.1:p.Cys1901Ter
ENST00000410020.7:c.5769T>A	ENSP00000386881.3:p.Cys1923Ter
ENST00000410041.1:c.5706T>A	ENSP00000386617.1:p.Cys1902Ter
ENST00000413539.6:c.5745T>A	ENSP00000407046.2:p.Cys1915Ter
ENST00000429174.6:c.5715T>A	ENSP00000398305.2:p.Cys1905Ter
ENST00000479049.6:n.2537T>A
NM_001130455.1:c.5655T>A	NP_001123927.1:p.Cys1885Ter
NM_001130976.1:c.5610T>A	NP_001124448.1:p.Cys1870Ter
NM_001130977.1:c.5673T>A	NP_001124449.1:p.Cys1891Ter
NM_001130978.1:c.5715T>A	NP_001124450.1:p.Cys1905Ter
NM_001130979.1:c.5745T>A	NP_001124451.1:p.Cys1915Ter
NM_001130980.1:c.5703T>A	NP_001124452.1:p.Cys1901Ter
NM_001130981.1:c.5766T>A	NP_001124453.1:p.Cys1922Ter
NM_001130982.1:c.5748T>A	NP_001124454.1:p.Cys1916Ter
NM_001130983.1:c.5718T>A	NP_001124455.1:p.Cys1906Ter
NM_001130984.1:c.5676T>A	NP_001124456.1:p.Cys1892Ter
NM_001130985.1:c.5706T>A	NP_001124457.1:p.Cys1902Ter
NM_001130986.1:c.5613T>A	NP_001124458.1:p.Cys1871Ter
NM_001130987.1:c.5769T>A	NP_001124459.1:p.Cys1923Ter
NM_003494.3:c.5652T>A	NP_003485.1:p.Cys1884Ter
XM_005264584.3:c.5811T>A	XP_005264641.1:p.Cys1937Ter
XM_005264585.3:c.5808T>A	XP_005264642.1:p.Cys1936Ter
XM_005264584.4:c.5811T>A	XP_005264641.1:p.Cys1937Ter
XM_005264585.5:c.5808T>A	XP_005264642.1:p.Cys1936Ter
NM_001130987.2:c.5769T>A MANE Select	NP_001124459.1:p.Cys1923Ter
NM_001130455.2:c.5655T>A	NP_001123927.1:p.Cys1885Ter
NM_001130976.2:c.5610T>A	NP_001124448.1:p.Cys1870Ter
NM_001130977.2:c.5673T>A	NP_001124449.1:p.Cys1891Ter
NM_001130978.2:c.5715T>A	NP_001124450.1:p.Cys1905Ter
NM_001130979.2:c.5745T>A	NP_001124451.1:p.Cys1915Ter
NM_001130980.2:c.5703T>A	NP_001124452.1:p.Cys1901Ter
NM_001130981.2:c.5766T>A	NP_001124453.1:p.Cys1922Ter
NM_001130982.2:c.5748T>A	NP_001124454.1:p.Cys1916Ter
NM_001130983.2:c.5718T>A	NP_001124455.1:p.Cys1906Ter
NM_001130984.2:c.5676T>A	NP_001124456.1:p.Cys1892Ter
NM_001130985.2:c.5706T>A	NP_001124457.1:p.Cys1902Ter
NM_001130986.2:c.5613T>A	NP_001124458.1:p.Cys1871Ter
NM_003494.4:c.5652T>A MANE Plus Clinical	NP_003485.1:p.Cys1884Ter