Canonical Allele Identifier: CA426704691

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906227C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679097C>T , CM000664.2:g.71679097C>T	GRCh38
NC_000002.11:g.71906227C>T , CM000664.1:g.71906227C>T	GRCh37
NC_000002.10:g.71759735C>T	NCBI36
NG_008694.1:g.230475C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3339C>T	ENSP00000513536.1:p.Ala1113=
ENST00000698058.1:c.2556C>T	ENSP00000513537.1:p.Ala852=
ENST00000698059.1:c.2664C>T	ENSP00000513538.1:p.Ala888=
ENST00000258104.8:c.5808C>T MANE Plus Clinical	ENSP00000258104.3:p.Ala1936=
ENST00000410020.8:c.5925C>T MANE Select	ENSP00000386881.3:p.Ala1975=
ENST00000258104.7:c.5808C>T	ENSP00000258104.3:p.Ala1936=
ENST00000394120.6:c.5811C>T	ENSP00000377678.2:p.Ala1937=
ENST00000409366.5:c.5874C>T	ENSP00000386512.1:p.Ala1958=
ENST00000409582.7:c.5922C>T	ENSP00000386547.3:p.Ala1974=
ENST00000409651.5:c.5904C>T	ENSP00000386683.1:p.Ala1968=
ENST00000409744.5:c.5832C>T	ENSP00000386285.1:p.Ala1944=
ENST00000409762.5:c.5859C>T	ENSP00000387137.1:p.Ala1953=
ENST00000410020.7:c.5925C>T	ENSP00000386881.3:p.Ala1975=
ENST00000410041.1:c.5862C>T	ENSP00000386617.1:p.Ala1954=
ENST00000413539.6:c.5901C>T	ENSP00000407046.2:p.Ala1967=
ENST00000429174.6:c.5871C>T	ENSP00000398305.2:p.Ala1957=
ENST00000479049.6:n.2693C>T
NM_001130455.1:c.5811C>T	NP_001123927.1:p.Ala1937=
NM_001130976.1:c.5766C>T	NP_001124448.1:p.Ala1922=
NM_001130977.1:c.5829C>T	NP_001124449.1:p.Ala1943=
NM_001130978.1:c.5871C>T	NP_001124450.1:p.Ala1957=
NM_001130979.1:c.5901C>T	NP_001124451.1:p.Ala1967=
NM_001130980.1:c.5859C>T	NP_001124452.1:p.Ala1953=
NM_001130981.1:c.5922C>T	NP_001124453.1:p.Ala1974=
NM_001130982.1:c.5904C>T	NP_001124454.1:p.Ala1968=
NM_001130983.1:c.5874C>T	NP_001124455.1:p.Ala1958=
NM_001130984.1:c.5832C>T	NP_001124456.1:p.Ala1944=
NM_001130985.1:c.5862C>T	NP_001124457.1:p.Ala1954=
NM_001130986.1:c.5769C>T	NP_001124458.1:p.Ala1923=
NM_001130987.1:c.5925C>T	NP_001124459.1:p.Ala1975=
NM_003494.3:c.5808C>T	NP_003485.1:p.Ala1936=
XM_005264584.3:c.5967C>T	XP_005264641.1:p.Ala1989=
XM_005264585.3:c.5964C>T	XP_005264642.1:p.Ala1988=
XM_005264584.4:c.5967C>T	XP_005264641.1:p.Ala1989=
XM_005264585.5:c.5964C>T	XP_005264642.1:p.Ala1988=
NM_001130987.2:c.5925C>T MANE Select	NP_001124459.1:p.Ala1975=
NM_001130455.2:c.5811C>T	NP_001123927.1:p.Ala1937=
NM_001130976.2:c.5766C>T	NP_001124448.1:p.Ala1922=
NM_001130977.2:c.5829C>T	NP_001124449.1:p.Ala1943=
NM_001130978.2:c.5871C>T	NP_001124450.1:p.Ala1957=
NM_001130979.2:c.5901C>T	NP_001124451.1:p.Ala1967=
NM_001130980.2:c.5859C>T	NP_001124452.1:p.Ala1953=
NM_001130981.2:c.5922C>T	NP_001124453.1:p.Ala1974=
NM_001130982.2:c.5904C>T	NP_001124454.1:p.Ala1968=
NM_001130983.2:c.5874C>T	NP_001124455.1:p.Ala1958=
NM_001130984.2:c.5832C>T	NP_001124456.1:p.Ala1944=
NM_001130985.2:c.5862C>T	NP_001124457.1:p.Ala1954=
NM_001130986.2:c.5769C>T	NP_001124458.1:p.Ala1923=
NM_003494.4:c.5808C>T MANE Plus Clinical	NP_003485.1:p.Ala1936=