Canonical Allele Identifier: CA347226313

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906237A>C (hg19) ; chr2:g.71679107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679107A>C , CM000664.2:g.71679107A>C	GRCh38
NC_000002.11:g.71906237A>C , CM000664.1:g.71906237A>C	GRCh37
NC_000002.10:g.71759745A>C	NCBI36
NG_008694.1:g.230485A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3349A>C	ENSP00000513536.1:p.Lys1117Gln
ENST00000698058.1:c.2566A>C	ENSP00000513537.1:p.Lys856Gln
ENST00000698059.1:c.2674A>C	ENSP00000513538.1:p.Lys892Gln
ENST00000258104.8:c.5818A>C MANE Plus Clinical	ENSP00000258104.3:p.Lys1940Gln
ENST00000410020.8:c.5935A>C MANE Select	ENSP00000386881.3:p.Lys1979Gln
ENST00000258104.7:c.5818A>C	ENSP00000258104.3:p.Lys1940Gln
ENST00000394120.6:c.5821A>C	ENSP00000377678.2:p.Lys1941Gln
ENST00000409366.5:c.5884A>C	ENSP00000386512.1:p.Lys1962Gln
ENST00000409582.7:c.5932A>C	ENSP00000386547.3:p.Lys1978Gln
ENST00000409651.5:c.5914A>C	ENSP00000386683.1:p.Lys1972Gln
ENST00000409744.5:c.5842A>C	ENSP00000386285.1:p.Lys1948Gln
ENST00000409762.5:c.5869A>C	ENSP00000387137.1:p.Lys1957Gln
ENST00000410020.7:c.5935A>C	ENSP00000386881.3:p.Lys1979Gln
ENST00000410041.1:c.5872A>C	ENSP00000386617.1:p.Lys1958Gln
ENST00000413539.6:c.5911A>C	ENSP00000407046.2:p.Lys1971Gln
ENST00000429174.6:c.5881A>C	ENSP00000398305.2:p.Lys1961Gln
ENST00000479049.6:n.2703A>C
NM_001130455.1:c.5821A>C	NP_001123927.1:p.Lys1941Gln
NM_001130976.1:c.5776A>C	NP_001124448.1:p.Lys1926Gln
NM_001130977.1:c.5839A>C	NP_001124449.1:p.Lys1947Gln
NM_001130978.1:c.5881A>C	NP_001124450.1:p.Lys1961Gln
NM_001130979.1:c.5911A>C	NP_001124451.1:p.Lys1971Gln
NM_001130980.1:c.5869A>C	NP_001124452.1:p.Lys1957Gln
NM_001130981.1:c.5932A>C	NP_001124453.1:p.Lys1978Gln
NM_001130982.1:c.5914A>C	NP_001124454.1:p.Lys1972Gln
NM_001130983.1:c.5884A>C	NP_001124455.1:p.Lys1962Gln
NM_001130984.1:c.5842A>C	NP_001124456.1:p.Lys1948Gln
NM_001130985.1:c.5872A>C	NP_001124457.1:p.Lys1958Gln
NM_001130986.1:c.5779A>C	NP_001124458.1:p.Lys1927Gln
NM_001130987.1:c.5935A>C	NP_001124459.1:p.Lys1979Gln
NM_003494.3:c.5818A>C	NP_003485.1:p.Lys1940Gln
XM_005264584.3:c.5977A>C	XP_005264641.1:p.Lys1993Gln
XM_005264585.3:c.5974A>C	XP_005264642.1:p.Lys1992Gln
XM_005264584.4:c.5977A>C	XP_005264641.1:p.Lys1993Gln
XM_005264585.5:c.5974A>C	XP_005264642.1:p.Lys1992Gln
NM_001130987.2:c.5935A>C MANE Select	NP_001124459.1:p.Lys1979Gln
NM_001130455.2:c.5821A>C	NP_001123927.1:p.Lys1941Gln
NM_001130976.2:c.5776A>C	NP_001124448.1:p.Lys1926Gln
NM_001130977.2:c.5839A>C	NP_001124449.1:p.Lys1947Gln
NM_001130978.2:c.5881A>C	NP_001124450.1:p.Lys1961Gln
NM_001130979.2:c.5911A>C	NP_001124451.1:p.Lys1971Gln
NM_001130980.2:c.5869A>C	NP_001124452.1:p.Lys1957Gln
NM_001130981.2:c.5932A>C	NP_001124453.1:p.Lys1978Gln
NM_001130982.2:c.5914A>C	NP_001124454.1:p.Lys1972Gln
NM_001130983.2:c.5884A>C	NP_001124455.1:p.Lys1962Gln
NM_001130984.2:c.5842A>C	NP_001124456.1:p.Lys1948Gln
NM_001130985.2:c.5872A>C	NP_001124457.1:p.Lys1958Gln
NM_001130986.2:c.5779A>C	NP_001124458.1:p.Lys1927Gln
NM_003494.4:c.5818A>C MANE Plus Clinical	NP_003485.1:p.Lys1940Gln