Canonical Allele Identifier: CA347226304

Gene: DYSF

Linked Data

• dbSNP Id: rs2095263244
• MyVariant Identifiers: chr2:g.71906231A>G (hg19) ; chr2:g.71679101A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3343A>G	ENSP00000513536.1:p.Thr1115Ala
ENST00000698058.1:c.2560A>G	ENSP00000513537.1:p.Thr854Ala
ENST00000698059.1:c.2668A>G	ENSP00000513538.1:p.Thr890Ala
ENST00000258104.8:c.5812A>G MANE Plus Clinical	ENSP00000258104.3:p.Thr1938Ala
ENST00000410020.8:c.5929A>G MANE Select	ENSP00000386881.3:p.Thr1977Ala
ENST00000258104.7:c.5812A>G	ENSP00000258104.3:p.Thr1938Ala
ENST00000394120.6:c.5815A>G	ENSP00000377678.2:p.Thr1939Ala
ENST00000409366.5:c.5878A>G	ENSP00000386512.1:p.Thr1960Ala
ENST00000409582.7:c.5926A>G	ENSP00000386547.3:p.Thr1976Ala
ENST00000409651.5:c.5908A>G	ENSP00000386683.1:p.Thr1970Ala
ENST00000409744.5:c.5836A>G	ENSP00000386285.1:p.Thr1946Ala
ENST00000409762.5:c.5863A>G	ENSP00000387137.1:p.Thr1955Ala
ENST00000410020.7:c.5929A>G	ENSP00000386881.3:p.Thr1977Ala
ENST00000410041.1:c.5866A>G	ENSP00000386617.1:p.Thr1956Ala
ENST00000413539.6:c.5905A>G	ENSP00000407046.2:p.Thr1969Ala
ENST00000429174.6:c.5875A>G	ENSP00000398305.2:p.Thr1959Ala
ENST00000479049.6:n.2697A>G
NM_001130455.1:c.5815A>G	NP_001123927.1:p.Thr1939Ala
NM_001130976.1:c.5770A>G	NP_001124448.1:p.Thr1924Ala
NM_001130977.1:c.5833A>G	NP_001124449.1:p.Thr1945Ala
NM_001130978.1:c.5875A>G	NP_001124450.1:p.Thr1959Ala
NM_001130979.1:c.5905A>G	NP_001124451.1:p.Thr1969Ala
NM_001130980.1:c.5863A>G	NP_001124452.1:p.Thr1955Ala
NM_001130981.1:c.5926A>G	NP_001124453.1:p.Thr1976Ala
NM_001130982.1:c.5908A>G	NP_001124454.1:p.Thr1970Ala
NM_001130983.1:c.5878A>G	NP_001124455.1:p.Thr1960Ala
NM_001130984.1:c.5836A>G	NP_001124456.1:p.Thr1946Ala
NM_001130985.1:c.5866A>G	NP_001124457.1:p.Thr1956Ala
NM_001130986.1:c.5773A>G	NP_001124458.1:p.Thr1925Ala
NM_001130987.1:c.5929A>G	NP_001124459.1:p.Thr1977Ala
NM_003494.3:c.5812A>G	NP_003485.1:p.Thr1938Ala
XM_005264584.3:c.5971A>G	XP_005264641.1:p.Thr1991Ala
XM_005264585.3:c.5968A>G	XP_005264642.1:p.Thr1990Ala
XM_005264584.4:c.5971A>G	XP_005264641.1:p.Thr1991Ala
XM_005264585.5:c.5968A>G	XP_005264642.1:p.Thr1990Ala
NM_001130987.2:c.5929A>G MANE Select	NP_001124459.1:p.Thr1977Ala
NM_001130455.2:c.5815A>G	NP_001123927.1:p.Thr1939Ala
NM_001130976.2:c.5770A>G	NP_001124448.1:p.Thr1924Ala
NM_001130977.2:c.5833A>G	NP_001124449.1:p.Thr1945Ala
NM_001130978.2:c.5875A>G	NP_001124450.1:p.Thr1959Ala
NM_001130979.2:c.5905A>G	NP_001124451.1:p.Thr1969Ala
NM_001130980.2:c.5863A>G	NP_001124452.1:p.Thr1955Ala
NM_001130981.2:c.5926A>G	NP_001124453.1:p.Thr1976Ala
NM_001130982.2:c.5908A>G	NP_001124454.1:p.Thr1970Ala
NM_001130983.2:c.5878A>G	NP_001124455.1:p.Thr1960Ala
NM_001130984.2:c.5836A>G	NP_001124456.1:p.Thr1946Ala
NM_001130985.2:c.5866A>G	NP_001124457.1:p.Thr1956Ala
NM_001130986.2:c.5773A>G	NP_001124458.1:p.Thr1925Ala
NM_003494.4:c.5812A>G MANE Plus Clinical	NP_003485.1:p.Thr1938Ala