Canonical Allele Identifier: CA426704693

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906230G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679100G>A , CM000664.2:g.71679100G>A	GRCh38
NC_000002.11:g.71906230G>A , CM000664.1:g.71906230G>A	GRCh37
NC_000002.10:g.71759738G>A	NCBI36
NG_008694.1:g.230478G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3342G>A	ENSP00000513536.1:p.Lys1114=
ENST00000698058.1:c.2559G>A	ENSP00000513537.1:p.Lys853=
ENST00000698059.1:c.2667G>A	ENSP00000513538.1:p.Lys889=
ENST00000258104.8:c.5811G>A MANE Plus Clinical	ENSP00000258104.3:p.Lys1937=
ENST00000410020.8:c.5928G>A MANE Select	ENSP00000386881.3:p.Lys1976=
ENST00000258104.7:c.5811G>A	ENSP00000258104.3:p.Lys1937=
ENST00000394120.6:c.5814G>A	ENSP00000377678.2:p.Lys1938=
ENST00000409366.5:c.5877G>A	ENSP00000386512.1:p.Lys1959=
ENST00000409582.7:c.5925G>A	ENSP00000386547.3:p.Lys1975=
ENST00000409651.5:c.5907G>A	ENSP00000386683.1:p.Lys1969=
ENST00000409744.5:c.5835G>A	ENSP00000386285.1:p.Lys1945=
ENST00000409762.5:c.5862G>A	ENSP00000387137.1:p.Lys1954=
ENST00000410020.7:c.5928G>A	ENSP00000386881.3:p.Lys1976=
ENST00000410041.1:c.5865G>A	ENSP00000386617.1:p.Lys1955=
ENST00000413539.6:c.5904G>A	ENSP00000407046.2:p.Lys1968=
ENST00000429174.6:c.5874G>A	ENSP00000398305.2:p.Lys1958=
ENST00000479049.6:n.2696G>A
NM_001130455.1:c.5814G>A	NP_001123927.1:p.Lys1938=
NM_001130976.1:c.5769G>A	NP_001124448.1:p.Lys1923=
NM_001130977.1:c.5832G>A	NP_001124449.1:p.Lys1944=
NM_001130978.1:c.5874G>A	NP_001124450.1:p.Lys1958=
NM_001130979.1:c.5904G>A	NP_001124451.1:p.Lys1968=
NM_001130980.1:c.5862G>A	NP_001124452.1:p.Lys1954=
NM_001130981.1:c.5925G>A	NP_001124453.1:p.Lys1975=
NM_001130982.1:c.5907G>A	NP_001124454.1:p.Lys1969=
NM_001130983.1:c.5877G>A	NP_001124455.1:p.Lys1959=
NM_001130984.1:c.5835G>A	NP_001124456.1:p.Lys1945=
NM_001130985.1:c.5865G>A	NP_001124457.1:p.Lys1955=
NM_001130986.1:c.5772G>A	NP_001124458.1:p.Lys1924=
NM_001130987.1:c.5928G>A	NP_001124459.1:p.Lys1976=
NM_003494.3:c.5811G>A	NP_003485.1:p.Lys1937=
XM_005264584.3:c.5970G>A	XP_005264641.1:p.Lys1990=
XM_005264585.3:c.5967G>A	XP_005264642.1:p.Lys1989=
XM_005264584.4:c.5970G>A	XP_005264641.1:p.Lys1990=
XM_005264585.5:c.5967G>A	XP_005264642.1:p.Lys1989=
NM_001130987.2:c.5928G>A MANE Select	NP_001124459.1:p.Lys1976=
NM_001130455.2:c.5814G>A	NP_001123927.1:p.Lys1938=
NM_001130976.2:c.5769G>A	NP_001124448.1:p.Lys1923=
NM_001130977.2:c.5832G>A	NP_001124449.1:p.Lys1944=
NM_001130978.2:c.5874G>A	NP_001124450.1:p.Lys1958=
NM_001130979.2:c.5904G>A	NP_001124451.1:p.Lys1968=
NM_001130980.2:c.5862G>A	NP_001124452.1:p.Lys1954=
NM_001130981.2:c.5925G>A	NP_001124453.1:p.Lys1975=
NM_001130982.2:c.5907G>A	NP_001124454.1:p.Lys1969=
NM_001130983.2:c.5877G>A	NP_001124455.1:p.Lys1959=
NM_001130984.2:c.5835G>A	NP_001124456.1:p.Lys1945=
NM_001130985.2:c.5865G>A	NP_001124457.1:p.Lys1955=
NM_001130986.2:c.5772G>A	NP_001124458.1:p.Lys1924=
NM_003494.4:c.5811G>A MANE Plus Clinical	NP_003485.1:p.Lys1937=