Canonical Allele Identifier: CA347226519

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906327C>G (hg19) ; chr2:g.71679197C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679197C>G , CM000664.2:g.71679197C>G	GRCh38
NC_000002.11:g.71906327C>G , CM000664.1:g.71906327C>G	GRCh37
NC_000002.10:g.71759835C>G	NCBI36
NG_008694.1:g.230575C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3439C>G	ENSP00000513536.1:p.Pro1147Ala
ENST00000698058.1:c.2656C>G	ENSP00000513537.1:p.Pro886Ala
ENST00000698059.1:c.2764C>G	ENSP00000513538.1:p.Pro922Ala
ENST00000258104.8:c.5908C>G MANE Plus Clinical	ENSP00000258104.3:p.Pro1970Ala
ENST00000410020.8:c.6025C>G MANE Select	ENSP00000386881.3:p.Pro2009Ala
ENST00000258104.7:c.5908C>G	ENSP00000258104.3:p.Pro1970Ala
ENST00000394120.6:c.5911C>G	ENSP00000377678.2:p.Pro1971Ala
ENST00000409366.5:c.5974C>G	ENSP00000386512.1:p.Pro1992Ala
ENST00000409582.7:c.6022C>G	ENSP00000386547.3:p.Pro2008Ala
ENST00000409651.5:c.6004C>G	ENSP00000386683.1:p.Pro2002Ala
ENST00000409744.5:c.5932C>G	ENSP00000386285.1:p.Pro1978Ala
ENST00000409762.5:c.5959C>G	ENSP00000387137.1:p.Pro1987Ala
ENST00000410020.7:c.6025C>G	ENSP00000386881.3:p.Pro2009Ala
ENST00000410041.1:c.5962C>G	ENSP00000386617.1:p.Pro1988Ala
ENST00000413539.6:c.6001C>G	ENSP00000407046.2:p.Pro2001Ala
ENST00000429174.6:c.5971C>G	ENSP00000398305.2:p.Pro1991Ala
ENST00000479049.6:n.2793C>G
NM_001130455.1:c.5911C>G	NP_001123927.1:p.Pro1971Ala
NM_001130976.1:c.5866C>G	NP_001124448.1:p.Pro1956Ala
NM_001130977.1:c.5929C>G	NP_001124449.1:p.Pro1977Ala
NM_001130978.1:c.5971C>G	NP_001124450.1:p.Pro1991Ala
NM_001130979.1:c.6001C>G	NP_001124451.1:p.Pro2001Ala
NM_001130980.1:c.5959C>G	NP_001124452.1:p.Pro1987Ala
NM_001130981.1:c.6022C>G	NP_001124453.1:p.Pro2008Ala
NM_001130982.1:c.6004C>G	NP_001124454.1:p.Pro2002Ala
NM_001130983.1:c.5974C>G	NP_001124455.1:p.Pro1992Ala
NM_001130984.1:c.5932C>G	NP_001124456.1:p.Pro1978Ala
NM_001130985.1:c.5962C>G	NP_001124457.1:p.Pro1988Ala
NM_001130986.1:c.5869C>G	NP_001124458.1:p.Pro1957Ala
NM_001130987.1:c.6025C>G	NP_001124459.1:p.Pro2009Ala
NM_003494.3:c.5908C>G	NP_003485.1:p.Pro1970Ala
XM_005264584.3:c.6067C>G	XP_005264641.1:p.Pro2023Ala
XM_005264585.3:c.6064C>G	XP_005264642.1:p.Pro2022Ala
XM_005264584.4:c.6067C>G	XP_005264641.1:p.Pro2023Ala
XM_005264585.5:c.6064C>G	XP_005264642.1:p.Pro2022Ala
NM_001130987.2:c.6025C>G MANE Select	NP_001124459.1:p.Pro2009Ala
NM_001130455.2:c.5911C>G	NP_001123927.1:p.Pro1971Ala
NM_001130976.2:c.5866C>G	NP_001124448.1:p.Pro1956Ala
NM_001130977.2:c.5929C>G	NP_001124449.1:p.Pro1977Ala
NM_001130978.2:c.5971C>G	NP_001124450.1:p.Pro1991Ala
NM_001130979.2:c.6001C>G	NP_001124451.1:p.Pro2001Ala
NM_001130980.2:c.5959C>G	NP_001124452.1:p.Pro1987Ala
NM_001130981.2:c.6022C>G	NP_001124453.1:p.Pro2008Ala
NM_001130982.2:c.6004C>G	NP_001124454.1:p.Pro2002Ala
NM_001130983.2:c.5974C>G	NP_001124455.1:p.Pro1992Ala
NM_001130984.2:c.5932C>G	NP_001124456.1:p.Pro1978Ala
NM_001130985.2:c.5962C>G	NP_001124457.1:p.Pro1988Ala
NM_001130986.2:c.5869C>G	NP_001124458.1:p.Pro1957Ala
NM_003494.4:c.5908C>G MANE Plus Clinical	NP_003485.1:p.Pro1970Ala