Canonical Allele Identifier: CA426704533

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1566728
• ClinVar RCV Id: RCV002220529
• dbSNP Id: rs2152956665
• MyVariant Identifiers: chr2:g.71896861T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3183T>C	ENSP00000513536.1:p.Cys1061=
ENST00000698058.1:c.2400T>C	ENSP00000513537.1:p.Cys800=
ENST00000698059.1:c.2508T>C	ENSP00000513538.1:p.Cys836=
ENST00000258104.8:c.5652T>C MANE Plus Clinical	ENSP00000258104.3:p.Cys1884=
ENST00000410020.8:c.5769T>C MANE Select	ENSP00000386881.3:p.Cys1923=
ENST00000258104.7:c.5652T>C	ENSP00000258104.3:p.Cys1884=
ENST00000394120.6:c.5655T>C	ENSP00000377678.2:p.Cys1885=
ENST00000409366.5:c.5718T>C	ENSP00000386512.1:p.Cys1906=
ENST00000409582.7:c.5766T>C	ENSP00000386547.3:p.Cys1922=
ENST00000409651.5:c.5748T>C	ENSP00000386683.1:p.Cys1916=
ENST00000409744.5:c.5676T>C	ENSP00000386285.1:p.Cys1892=
ENST00000409762.5:c.5703T>C	ENSP00000387137.1:p.Cys1901=
ENST00000410020.7:c.5769T>C	ENSP00000386881.3:p.Cys1923=
ENST00000410041.1:c.5706T>C	ENSP00000386617.1:p.Cys1902=
ENST00000413539.6:c.5745T>C	ENSP00000407046.2:p.Cys1915=
ENST00000429174.6:c.5715T>C	ENSP00000398305.2:p.Cys1905=
ENST00000479049.6:n.2537T>C
NM_001130455.1:c.5655T>C	NP_001123927.1:p.Cys1885=
NM_001130976.1:c.5610T>C	NP_001124448.1:p.Cys1870=
NM_001130977.1:c.5673T>C	NP_001124449.1:p.Cys1891=
NM_001130978.1:c.5715T>C	NP_001124450.1:p.Cys1905=
NM_001130979.1:c.5745T>C	NP_001124451.1:p.Cys1915=
NM_001130980.1:c.5703T>C	NP_001124452.1:p.Cys1901=
NM_001130981.1:c.5766T>C	NP_001124453.1:p.Cys1922=
NM_001130982.1:c.5748T>C	NP_001124454.1:p.Cys1916=
NM_001130983.1:c.5718T>C	NP_001124455.1:p.Cys1906=
NM_001130984.1:c.5676T>C	NP_001124456.1:p.Cys1892=
NM_001130985.1:c.5706T>C	NP_001124457.1:p.Cys1902=
NM_001130986.1:c.5613T>C	NP_001124458.1:p.Cys1871=
NM_001130987.1:c.5769T>C	NP_001124459.1:p.Cys1923=
NM_003494.3:c.5652T>C	NP_003485.1:p.Cys1884=
XM_005264584.3:c.5811T>C	XP_005264641.1:p.Cys1937=
XM_005264585.3:c.5808T>C	XP_005264642.1:p.Cys1936=
XM_005264584.4:c.5811T>C	XP_005264641.1:p.Cys1937=
XM_005264585.5:c.5808T>C	XP_005264642.1:p.Cys1936=
NM_001130987.2:c.5769T>C MANE Select	NP_001124459.1:p.Cys1923=
NM_001130455.2:c.5655T>C	NP_001123927.1:p.Cys1885=
NM_001130976.2:c.5610T>C	NP_001124448.1:p.Cys1870=
NM_001130977.2:c.5673T>C	NP_001124449.1:p.Cys1891=
NM_001130978.2:c.5715T>C	NP_001124450.1:p.Cys1905=
NM_001130979.2:c.5745T>C	NP_001124451.1:p.Cys1915=
NM_001130980.2:c.5703T>C	NP_001124452.1:p.Cys1901=
NM_001130981.2:c.5766T>C	NP_001124453.1:p.Cys1922=
NM_001130982.2:c.5748T>C	NP_001124454.1:p.Cys1916=
NM_001130983.2:c.5718T>C	NP_001124455.1:p.Cys1906=
NM_001130984.2:c.5676T>C	NP_001124456.1:p.Cys1892=
NM_001130985.2:c.5706T>C	NP_001124457.1:p.Cys1902=
NM_001130986.2:c.5613T>C	NP_001124458.1:p.Cys1871=
NM_003494.4:c.5652T>C MANE Plus Clinical	NP_003485.1:p.Cys1884=