Canonical Allele Identifier: CA347226305

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906231A>T (hg19) ; chr2:g.71679101A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679101A>T , CM000664.2:g.71679101A>T	GRCh38
NC_000002.11:g.71906231A>T , CM000664.1:g.71906231A>T	GRCh37
NC_000002.10:g.71759739A>T	NCBI36
NG_008694.1:g.230479A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3343A>T	ENSP00000513536.1:p.Thr1115Ser
ENST00000698058.1:c.2560A>T	ENSP00000513537.1:p.Thr854Ser
ENST00000698059.1:c.2668A>T	ENSP00000513538.1:p.Thr890Ser
ENST00000258104.8:c.5812A>T MANE Plus Clinical	ENSP00000258104.3:p.Thr1938Ser
ENST00000410020.8:c.5929A>T MANE Select	ENSP00000386881.3:p.Thr1977Ser
ENST00000258104.7:c.5812A>T	ENSP00000258104.3:p.Thr1938Ser
ENST00000394120.6:c.5815A>T	ENSP00000377678.2:p.Thr1939Ser
ENST00000409366.5:c.5878A>T	ENSP00000386512.1:p.Thr1960Ser
ENST00000409582.7:c.5926A>T	ENSP00000386547.3:p.Thr1976Ser
ENST00000409651.5:c.5908A>T	ENSP00000386683.1:p.Thr1970Ser
ENST00000409744.5:c.5836A>T	ENSP00000386285.1:p.Thr1946Ser
ENST00000409762.5:c.5863A>T	ENSP00000387137.1:p.Thr1955Ser
ENST00000410020.7:c.5929A>T	ENSP00000386881.3:p.Thr1977Ser
ENST00000410041.1:c.5866A>T	ENSP00000386617.1:p.Thr1956Ser
ENST00000413539.6:c.5905A>T	ENSP00000407046.2:p.Thr1969Ser
ENST00000429174.6:c.5875A>T	ENSP00000398305.2:p.Thr1959Ser
ENST00000479049.6:n.2697A>T
NM_001130455.1:c.5815A>T	NP_001123927.1:p.Thr1939Ser
NM_001130976.1:c.5770A>T	NP_001124448.1:p.Thr1924Ser
NM_001130977.1:c.5833A>T	NP_001124449.1:p.Thr1945Ser
NM_001130978.1:c.5875A>T	NP_001124450.1:p.Thr1959Ser
NM_001130979.1:c.5905A>T	NP_001124451.1:p.Thr1969Ser
NM_001130980.1:c.5863A>T	NP_001124452.1:p.Thr1955Ser
NM_001130981.1:c.5926A>T	NP_001124453.1:p.Thr1976Ser
NM_001130982.1:c.5908A>T	NP_001124454.1:p.Thr1970Ser
NM_001130983.1:c.5878A>T	NP_001124455.1:p.Thr1960Ser
NM_001130984.1:c.5836A>T	NP_001124456.1:p.Thr1946Ser
NM_001130985.1:c.5866A>T	NP_001124457.1:p.Thr1956Ser
NM_001130986.1:c.5773A>T	NP_001124458.1:p.Thr1925Ser
NM_001130987.1:c.5929A>T	NP_001124459.1:p.Thr1977Ser
NM_003494.3:c.5812A>T	NP_003485.1:p.Thr1938Ser
XM_005264584.3:c.5971A>T	XP_005264641.1:p.Thr1991Ser
XM_005264585.3:c.5968A>T	XP_005264642.1:p.Thr1990Ser
XM_005264584.4:c.5971A>T	XP_005264641.1:p.Thr1991Ser
XM_005264585.5:c.5968A>T	XP_005264642.1:p.Thr1990Ser
NM_001130987.2:c.5929A>T MANE Select	NP_001124459.1:p.Thr1977Ser
NM_001130455.2:c.5815A>T	NP_001123927.1:p.Thr1939Ser
NM_001130976.2:c.5770A>T	NP_001124448.1:p.Thr1924Ser
NM_001130977.2:c.5833A>T	NP_001124449.1:p.Thr1945Ser
NM_001130978.2:c.5875A>T	NP_001124450.1:p.Thr1959Ser
NM_001130979.2:c.5905A>T	NP_001124451.1:p.Thr1969Ser
NM_001130980.2:c.5863A>T	NP_001124452.1:p.Thr1955Ser
NM_001130981.2:c.5926A>T	NP_001124453.1:p.Thr1976Ser
NM_001130982.2:c.5908A>T	NP_001124454.1:p.Thr1970Ser
NM_001130983.2:c.5878A>T	NP_001124455.1:p.Thr1960Ser
NM_001130984.2:c.5836A>T	NP_001124456.1:p.Thr1946Ser
NM_001130985.2:c.5866A>T	NP_001124457.1:p.Thr1956Ser
NM_001130986.2:c.5773A>T	NP_001124458.1:p.Thr1925Ser
NM_003494.4:c.5812A>T MANE Plus Clinical	NP_003485.1:p.Thr1938Ser