Canonical Allele Identifier: CA347225417

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71901416T>A (hg19) ; chr2:g.71674286T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71674286T>A , CM000664.2:g.71674286T>A	GRCh38
NC_000002.11:g.71901416T>A , CM000664.1:g.71901416T>A	GRCh37
NC_000002.10:g.71754924T>A	NCBI36
NG_008694.1:g.225664T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3288T>A	ENSP00000513536.1:p.Asp1096Glu
ENST00000698058.1:c.2505T>A	ENSP00000513537.1:p.Asp835Glu
ENST00000698059.1:c.2613T>A	ENSP00000513538.1:p.Asp871Glu
ENST00000258104.8:c.5757T>A MANE Plus Clinical	ENSP00000258104.3:p.Asp1919Glu
ENST00000410020.8:c.5874T>A MANE Select	ENSP00000386881.3:p.Asp1958Glu
ENST00000258104.7:c.5757T>A	ENSP00000258104.3:p.Asp1919Glu
ENST00000394120.6:c.5760T>A	ENSP00000377678.2:p.Asp1920Glu
ENST00000409366.5:c.5823T>A	ENSP00000386512.1:p.Asp1941Glu
ENST00000409582.7:c.5871T>A	ENSP00000386547.3:p.Asp1957Glu
ENST00000409651.5:c.5853T>A	ENSP00000386683.1:p.Asp1951Glu
ENST00000409744.5:c.5781T>A	ENSP00000386285.1:p.Asp1927Glu
ENST00000409762.5:c.5808T>A	ENSP00000387137.1:p.Asp1936Glu
ENST00000410020.7:c.5874T>A	ENSP00000386881.3:p.Asp1958Glu
ENST00000410041.1:c.5811T>A	ENSP00000386617.1:p.Asp1937Glu
ENST00000413539.6:c.5850T>A	ENSP00000407046.2:p.Asp1950Glu
ENST00000429174.6:c.5820T>A	ENSP00000398305.2:p.Asp1940Glu
ENST00000479049.6:n.2642T>A
NM_001130455.1:c.5760T>A	NP_001123927.1:p.Asp1920Glu
NM_001130976.1:c.5715T>A	NP_001124448.1:p.Asp1905Glu
NM_001130977.1:c.5778T>A	NP_001124449.1:p.Asp1926Glu
NM_001130978.1:c.5820T>A	NP_001124450.1:p.Asp1940Glu
NM_001130979.1:c.5850T>A	NP_001124451.1:p.Asp1950Glu
NM_001130980.1:c.5808T>A	NP_001124452.1:p.Asp1936Glu
NM_001130981.1:c.5871T>A	NP_001124453.1:p.Asp1957Glu
NM_001130982.1:c.5853T>A	NP_001124454.1:p.Asp1951Glu
NM_001130983.1:c.5823T>A	NP_001124455.1:p.Asp1941Glu
NM_001130984.1:c.5781T>A	NP_001124456.1:p.Asp1927Glu
NM_001130985.1:c.5811T>A	NP_001124457.1:p.Asp1937Glu
NM_001130986.1:c.5718T>A	NP_001124458.1:p.Asp1906Glu
NM_001130987.1:c.5874T>A	NP_001124459.1:p.Asp1958Glu
NM_003494.3:c.5757T>A	NP_003485.1:p.Asp1919Glu
XM_005264584.3:c.5916T>A	XP_005264641.1:p.Asp1972Glu
XM_005264585.3:c.5913T>A	XP_005264642.1:p.Asp1971Glu
XM_005264584.4:c.5916T>A	XP_005264641.1:p.Asp1972Glu
XM_005264585.5:c.5913T>A	XP_005264642.1:p.Asp1971Glu
NM_001130987.2:c.5874T>A MANE Select	NP_001124459.1:p.Asp1958Glu
NM_001130455.2:c.5760T>A	NP_001123927.1:p.Asp1920Glu
NM_001130976.2:c.5715T>A	NP_001124448.1:p.Asp1905Glu
NM_001130977.2:c.5778T>A	NP_001124449.1:p.Asp1926Glu
NM_001130978.2:c.5820T>A	NP_001124450.1:p.Asp1940Glu
NM_001130979.2:c.5850T>A	NP_001124451.1:p.Asp1950Glu
NM_001130980.2:c.5808T>A	NP_001124452.1:p.Asp1936Glu
NM_001130981.2:c.5871T>A	NP_001124453.1:p.Asp1957Glu
NM_001130982.2:c.5853T>A	NP_001124454.1:p.Asp1951Glu
NM_001130983.2:c.5823T>A	NP_001124455.1:p.Asp1941Glu
NM_001130984.2:c.5781T>A	NP_001124456.1:p.Asp1927Glu
NM_001130985.2:c.5811T>A	NP_001124457.1:p.Asp1937Glu
NM_001130986.2:c.5718T>A	NP_001124458.1:p.Asp1906Glu
NM_003494.4:c.5757T>A MANE Plus Clinical	NP_003485.1:p.Asp1919Glu