Canonical Allele Identifier: CA347226537

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906332T>A (hg19) ; chr2:g.71679202T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679202T>A , CM000664.2:g.71679202T>A	GRCh38
NC_000002.11:g.71906332T>A , CM000664.1:g.71906332T>A	GRCh37
NC_000002.10:g.71759840T>A	NCBI36
NG_008694.1:g.230580T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3444T>A	ENSP00000513536.1:p.Cys1148Ter
ENST00000698058.1:c.2661T>A	ENSP00000513537.1:p.Cys887Ter
ENST00000698059.1:c.2769T>A	ENSP00000513538.1:p.Cys923Ter
ENST00000258104.8:c.5913T>A MANE Plus Clinical	ENSP00000258104.3:p.Cys1971Ter
ENST00000410020.8:c.6030T>A MANE Select	ENSP00000386881.3:p.Cys2010Ter
ENST00000258104.7:c.5913T>A	ENSP00000258104.3:p.Cys1971Ter
ENST00000394120.6:c.5916T>A	ENSP00000377678.2:p.Cys1972Ter
ENST00000409366.5:c.5979T>A	ENSP00000386512.1:p.Cys1993Ter
ENST00000409582.7:c.6027T>A	ENSP00000386547.3:p.Cys2009Ter
ENST00000409651.5:c.6009T>A	ENSP00000386683.1:p.Cys2003Ter
ENST00000409744.5:c.5937T>A	ENSP00000386285.1:p.Cys1979Ter
ENST00000409762.5:c.5964T>A	ENSP00000387137.1:p.Cys1988Ter
ENST00000410020.7:c.6030T>A	ENSP00000386881.3:p.Cys2010Ter
ENST00000410041.1:c.5967T>A	ENSP00000386617.1:p.Cys1989Ter
ENST00000413539.6:c.6006T>A	ENSP00000407046.2:p.Cys2002Ter
ENST00000429174.6:c.5976T>A	ENSP00000398305.2:p.Cys1992Ter
ENST00000479049.6:n.2798T>A
NM_001130455.1:c.5916T>A	NP_001123927.1:p.Cys1972Ter
NM_001130976.1:c.5871T>A	NP_001124448.1:p.Cys1957Ter
NM_001130977.1:c.5934T>A	NP_001124449.1:p.Cys1978Ter
NM_001130978.1:c.5976T>A	NP_001124450.1:p.Cys1992Ter
NM_001130979.1:c.6006T>A	NP_001124451.1:p.Cys2002Ter
NM_001130980.1:c.5964T>A	NP_001124452.1:p.Cys1988Ter
NM_001130981.1:c.6027T>A	NP_001124453.1:p.Cys2009Ter
NM_001130982.1:c.6009T>A	NP_001124454.1:p.Cys2003Ter
NM_001130983.1:c.5979T>A	NP_001124455.1:p.Cys1993Ter
NM_001130984.1:c.5937T>A	NP_001124456.1:p.Cys1979Ter
NM_001130985.1:c.5967T>A	NP_001124457.1:p.Cys1989Ter
NM_001130986.1:c.5874T>A	NP_001124458.1:p.Cys1958Ter
NM_001130987.1:c.6030T>A	NP_001124459.1:p.Cys2010Ter
NM_003494.3:c.5913T>A	NP_003485.1:p.Cys1971Ter
XM_005264584.3:c.6072T>A	XP_005264641.1:p.Cys2024Ter
XM_005264585.3:c.6069T>A	XP_005264642.1:p.Cys2023Ter
XM_005264584.4:c.6072T>A	XP_005264641.1:p.Cys2024Ter
XM_005264585.5:c.6069T>A	XP_005264642.1:p.Cys2023Ter
NM_001130987.2:c.6030T>A MANE Select	NP_001124459.1:p.Cys2010Ter
NM_001130455.2:c.5916T>A	NP_001123927.1:p.Cys1972Ter
NM_001130976.2:c.5871T>A	NP_001124448.1:p.Cys1957Ter
NM_001130977.2:c.5934T>A	NP_001124449.1:p.Cys1978Ter
NM_001130978.2:c.5976T>A	NP_001124450.1:p.Cys1992Ter
NM_001130979.2:c.6006T>A	NP_001124451.1:p.Cys2002Ter
NM_001130980.2:c.5964T>A	NP_001124452.1:p.Cys1988Ter
NM_001130981.2:c.6027T>A	NP_001124453.1:p.Cys2009Ter
NM_001130982.2:c.6009T>A	NP_001124454.1:p.Cys2003Ter
NM_001130983.2:c.5979T>A	NP_001124455.1:p.Cys1993Ter
NM_001130984.2:c.5937T>A	NP_001124456.1:p.Cys1979Ter
NM_001130985.2:c.5967T>A	NP_001124457.1:p.Cys1989Ter
NM_001130986.2:c.5874T>A	NP_001124458.1:p.Cys1958Ter
NM_003494.4:c.5913T>A MANE Plus Clinical	NP_003485.1:p.Cys1971Ter