Canonical Allele Identifier: CA347226535

Gene: DYSF

Linked Data

• gnomAD v4: 2-71679201-G-T
• COSMIC: COSM6273553 ; COSM6273554
• MyVariant Identifiers: chr2:g.71906331G>T (hg19) ; chr2:g.71679201G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679201G>T , CM000664.2:g.71679201G>T	GRCh38
NC_000002.11:g.71906331G>T , CM000664.1:g.71906331G>T	GRCh37
NC_000002.10:g.71759839G>T	NCBI36
NG_008694.1:g.230579G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3443G>T	ENSP00000513536.1:p.Cys1148Phe
ENST00000698058.1:c.2660G>T	ENSP00000513537.1:p.Cys887Phe
ENST00000698059.1:c.2768G>T	ENSP00000513538.1:p.Cys923Phe
ENST00000258104.8:c.5912G>T MANE Plus Clinical	ENSP00000258104.3:p.Cys1971Phe
ENST00000410020.8:c.6029G>T MANE Select	ENSP00000386881.3:p.Cys2010Phe
ENST00000258104.7:c.5912G>T	ENSP00000258104.3:p.Cys1971Phe
ENST00000394120.6:c.5915G>T	ENSP00000377678.2:p.Cys1972Phe
ENST00000409366.5:c.5978G>T	ENSP00000386512.1:p.Cys1993Phe
ENST00000409582.7:c.6026G>T	ENSP00000386547.3:p.Cys2009Phe
ENST00000409651.5:c.6008G>T	ENSP00000386683.1:p.Cys2003Phe
ENST00000409744.5:c.5936G>T	ENSP00000386285.1:p.Cys1979Phe
ENST00000409762.5:c.5963G>T	ENSP00000387137.1:p.Cys1988Phe
ENST00000410020.7:c.6029G>T	ENSP00000386881.3:p.Cys2010Phe
ENST00000410041.1:c.5966G>T	ENSP00000386617.1:p.Cys1989Phe
ENST00000413539.6:c.6005G>T	ENSP00000407046.2:p.Cys2002Phe
ENST00000429174.6:c.5975G>T	ENSP00000398305.2:p.Cys1992Phe
ENST00000479049.6:n.2797G>T
NM_001130455.1:c.5915G>T	NP_001123927.1:p.Cys1972Phe
NM_001130976.1:c.5870G>T	NP_001124448.1:p.Cys1957Phe
NM_001130977.1:c.5933G>T	NP_001124449.1:p.Cys1978Phe
NM_001130978.1:c.5975G>T	NP_001124450.1:p.Cys1992Phe
NM_001130979.1:c.6005G>T	NP_001124451.1:p.Cys2002Phe
NM_001130980.1:c.5963G>T	NP_001124452.1:p.Cys1988Phe
NM_001130981.1:c.6026G>T	NP_001124453.1:p.Cys2009Phe
NM_001130982.1:c.6008G>T	NP_001124454.1:p.Cys2003Phe
NM_001130983.1:c.5978G>T	NP_001124455.1:p.Cys1993Phe
NM_001130984.1:c.5936G>T	NP_001124456.1:p.Cys1979Phe
NM_001130985.1:c.5966G>T	NP_001124457.1:p.Cys1989Phe
NM_001130986.1:c.5873G>T	NP_001124458.1:p.Cys1958Phe
NM_001130987.1:c.6029G>T	NP_001124459.1:p.Cys2010Phe
NM_003494.3:c.5912G>T	NP_003485.1:p.Cys1971Phe
XM_005264584.3:c.6071G>T	XP_005264641.1:p.Cys2024Phe
XM_005264585.3:c.6068G>T	XP_005264642.1:p.Cys2023Phe
XM_005264584.4:c.6071G>T	XP_005264641.1:p.Cys2024Phe
XM_005264585.5:c.6068G>T	XP_005264642.1:p.Cys2023Phe
NM_001130987.2:c.6029G>T MANE Select	NP_001124459.1:p.Cys2010Phe
NM_001130455.2:c.5915G>T	NP_001123927.1:p.Cys1972Phe
NM_001130976.2:c.5870G>T	NP_001124448.1:p.Cys1957Phe
NM_001130977.2:c.5933G>T	NP_001124449.1:p.Cys1978Phe
NM_001130978.2:c.5975G>T	NP_001124450.1:p.Cys1992Phe
NM_001130979.2:c.6005G>T	NP_001124451.1:p.Cys2002Phe
NM_001130980.2:c.5963G>T	NP_001124452.1:p.Cys1988Phe
NM_001130981.2:c.6026G>T	NP_001124453.1:p.Cys2009Phe
NM_001130982.2:c.6008G>T	NP_001124454.1:p.Cys2003Phe
NM_001130983.2:c.5978G>T	NP_001124455.1:p.Cys1993Phe
NM_001130984.2:c.5936G>T	NP_001124456.1:p.Cys1979Phe
NM_001130985.2:c.5966G>T	NP_001124457.1:p.Cys1989Phe
NM_001130986.2:c.5873G>T	NP_001124458.1:p.Cys1958Phe
NM_003494.4:c.5912G>T MANE Plus Clinical	NP_003485.1:p.Cys1971Phe