Canonical Allele Identifier: CA426704747

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906332T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3444T>C	ENSP00000513536.1:p.Cys1148=
ENST00000698058.1:c.2661T>C	ENSP00000513537.1:p.Cys887=
ENST00000698059.1:c.2769T>C	ENSP00000513538.1:p.Cys923=
ENST00000258104.8:c.5913T>C MANE Plus Clinical	ENSP00000258104.3:p.Cys1971=
ENST00000410020.8:c.6030T>C MANE Select	ENSP00000386881.3:p.Cys2010=
ENST00000258104.7:c.5913T>C	ENSP00000258104.3:p.Cys1971=
ENST00000394120.6:c.5916T>C	ENSP00000377678.2:p.Cys1972=
ENST00000409366.5:c.5979T>C	ENSP00000386512.1:p.Cys1993=
ENST00000409582.7:c.6027T>C	ENSP00000386547.3:p.Cys2009=
ENST00000409651.5:c.6009T>C	ENSP00000386683.1:p.Cys2003=
ENST00000409744.5:c.5937T>C	ENSP00000386285.1:p.Cys1979=
ENST00000409762.5:c.5964T>C	ENSP00000387137.1:p.Cys1988=
ENST00000410020.7:c.6030T>C	ENSP00000386881.3:p.Cys2010=
ENST00000410041.1:c.5967T>C	ENSP00000386617.1:p.Cys1989=
ENST00000413539.6:c.6006T>C	ENSP00000407046.2:p.Cys2002=
ENST00000429174.6:c.5976T>C	ENSP00000398305.2:p.Cys1992=
ENST00000479049.6:n.2798T>C
NM_001130455.1:c.5916T>C	NP_001123927.1:p.Cys1972=
NM_001130976.1:c.5871T>C	NP_001124448.1:p.Cys1957=
NM_001130977.1:c.5934T>C	NP_001124449.1:p.Cys1978=
NM_001130978.1:c.5976T>C	NP_001124450.1:p.Cys1992=
NM_001130979.1:c.6006T>C	NP_001124451.1:p.Cys2002=
NM_001130980.1:c.5964T>C	NP_001124452.1:p.Cys1988=
NM_001130981.1:c.6027T>C	NP_001124453.1:p.Cys2009=
NM_001130982.1:c.6009T>C	NP_001124454.1:p.Cys2003=
NM_001130983.1:c.5979T>C	NP_001124455.1:p.Cys1993=
NM_001130984.1:c.5937T>C	NP_001124456.1:p.Cys1979=
NM_001130985.1:c.5967T>C	NP_001124457.1:p.Cys1989=
NM_001130986.1:c.5874T>C	NP_001124458.1:p.Cys1958=
NM_001130987.1:c.6030T>C	NP_001124459.1:p.Cys2010=
NM_003494.3:c.5913T>C	NP_003485.1:p.Cys1971=
XM_005264584.3:c.6072T>C	XP_005264641.1:p.Cys2024=
XM_005264585.3:c.6069T>C	XP_005264642.1:p.Cys2023=
XM_005264584.4:c.6072T>C	XP_005264641.1:p.Cys2024=
XM_005264585.5:c.6069T>C	XP_005264642.1:p.Cys2023=
NM_001130987.2:c.6030T>C MANE Select	NP_001124459.1:p.Cys2010=
NM_001130455.2:c.5916T>C	NP_001123927.1:p.Cys1972=
NM_001130976.2:c.5871T>C	NP_001124448.1:p.Cys1957=
NM_001130977.2:c.5934T>C	NP_001124449.1:p.Cys1978=
NM_001130978.2:c.5976T>C	NP_001124450.1:p.Cys1992=
NM_001130979.2:c.6006T>C	NP_001124451.1:p.Cys2002=
NM_001130980.2:c.5964T>C	NP_001124452.1:p.Cys1988=
NM_001130981.2:c.6027T>C	NP_001124453.1:p.Cys2009=
NM_001130982.2:c.6009T>C	NP_001124454.1:p.Cys2003=
NM_001130983.2:c.5979T>C	NP_001124455.1:p.Cys1993=
NM_001130984.2:c.5937T>C	NP_001124456.1:p.Cys1979=
NM_001130985.2:c.5967T>C	NP_001124457.1:p.Cys1989=
NM_001130986.2:c.5874T>C	NP_001124458.1:p.Cys1958=
NM_003494.4:c.5913T>C MANE Plus Clinical	NP_003485.1:p.Cys1971=