Canonical Allele Identifier: CA347226318

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906238A>T (hg19) ; chr2:g.71679108A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679108A>T , CM000664.2:g.71679108A>T	GRCh38
NC_000002.11:g.71906238A>T , CM000664.1:g.71906238A>T	GRCh37
NC_000002.10:g.71759746A>T	NCBI36
NG_008694.1:g.230486A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3350A>T	ENSP00000513536.1:p.Lys1117Met
ENST00000698058.1:c.2567A>T	ENSP00000513537.1:p.Lys856Met
ENST00000698059.1:c.2675A>T	ENSP00000513538.1:p.Lys892Met
ENST00000258104.8:c.5819A>T MANE Plus Clinical	ENSP00000258104.3:p.Lys1940Met
ENST00000410020.8:c.5936A>T MANE Select	ENSP00000386881.3:p.Lys1979Met
ENST00000258104.7:c.5819A>T	ENSP00000258104.3:p.Lys1940Met
ENST00000394120.6:c.5822A>T	ENSP00000377678.2:p.Lys1941Met
ENST00000409366.5:c.5885A>T	ENSP00000386512.1:p.Lys1962Met
ENST00000409582.7:c.5933A>T	ENSP00000386547.3:p.Lys1978Met
ENST00000409651.5:c.5915A>T	ENSP00000386683.1:p.Lys1972Met
ENST00000409744.5:c.5843A>T	ENSP00000386285.1:p.Lys1948Met
ENST00000409762.5:c.5870A>T	ENSP00000387137.1:p.Lys1957Met
ENST00000410020.7:c.5936A>T	ENSP00000386881.3:p.Lys1979Met
ENST00000410041.1:c.5873A>T	ENSP00000386617.1:p.Lys1958Met
ENST00000413539.6:c.5912A>T	ENSP00000407046.2:p.Lys1971Met
ENST00000429174.6:c.5882A>T	ENSP00000398305.2:p.Lys1961Met
ENST00000479049.6:n.2704A>T
NM_001130455.1:c.5822A>T	NP_001123927.1:p.Lys1941Met
NM_001130976.1:c.5777A>T	NP_001124448.1:p.Lys1926Met
NM_001130977.1:c.5840A>T	NP_001124449.1:p.Lys1947Met
NM_001130978.1:c.5882A>T	NP_001124450.1:p.Lys1961Met
NM_001130979.1:c.5912A>T	NP_001124451.1:p.Lys1971Met
NM_001130980.1:c.5870A>T	NP_001124452.1:p.Lys1957Met
NM_001130981.1:c.5933A>T	NP_001124453.1:p.Lys1978Met
NM_001130982.1:c.5915A>T	NP_001124454.1:p.Lys1972Met
NM_001130983.1:c.5885A>T	NP_001124455.1:p.Lys1962Met
NM_001130984.1:c.5843A>T	NP_001124456.1:p.Lys1948Met
NM_001130985.1:c.5873A>T	NP_001124457.1:p.Lys1958Met
NM_001130986.1:c.5780A>T	NP_001124458.1:p.Lys1927Met
NM_001130987.1:c.5936A>T	NP_001124459.1:p.Lys1979Met
NM_003494.3:c.5819A>T	NP_003485.1:p.Lys1940Met
XM_005264584.3:c.5978A>T	XP_005264641.1:p.Lys1993Met
XM_005264585.3:c.5975A>T	XP_005264642.1:p.Lys1992Met
XM_005264584.4:c.5978A>T	XP_005264641.1:p.Lys1993Met
XM_005264585.5:c.5975A>T	XP_005264642.1:p.Lys1992Met
NM_001130987.2:c.5936A>T MANE Select	NP_001124459.1:p.Lys1979Met
NM_001130455.2:c.5822A>T	NP_001123927.1:p.Lys1941Met
NM_001130976.2:c.5777A>T	NP_001124448.1:p.Lys1926Met
NM_001130977.2:c.5840A>T	NP_001124449.1:p.Lys1947Met
NM_001130978.2:c.5882A>T	NP_001124450.1:p.Lys1961Met
NM_001130979.2:c.5912A>T	NP_001124451.1:p.Lys1971Met
NM_001130980.2:c.5870A>T	NP_001124452.1:p.Lys1957Met
NM_001130981.2:c.5933A>T	NP_001124453.1:p.Lys1978Met
NM_001130982.2:c.5915A>T	NP_001124454.1:p.Lys1972Met
NM_001130983.2:c.5885A>T	NP_001124455.1:p.Lys1962Met
NM_001130984.2:c.5843A>T	NP_001124456.1:p.Lys1948Met
NM_001130985.2:c.5873A>T	NP_001124457.1:p.Lys1958Met
NM_001130986.2:c.5780A>T	NP_001124458.1:p.Lys1927Met
NM_003494.4:c.5819A>T MANE Plus Clinical	NP_003485.1:p.Lys1940Met