Canonical Allele Identifier: CA16604254

Gene: DYSF

Linked Data

• ClinVar Variation Id: 381677
• ClinVar RCV Id: RCV000424011 ; RCV000671182 ; RCV001861509 ; RCV003470383
• dbSNP Id: rs1057521141
• gnomAD v4: 2-71679197-C-T
• MyVariant Identifiers: chr2:g.71906327C>T (hg19) ; chr2:g.71679197C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3439C>T	ENSP00000513536.1:p.Pro1147Ser
ENST00000698058.1:c.2656C>T	ENSP00000513537.1:p.Pro886Ser
ENST00000698059.1:c.2764C>T	ENSP00000513538.1:p.Pro922Ser
ENST00000258104.8:c.5908C>T MANE Plus Clinical	ENSP00000258104.3:p.Pro1970Ser
ENST00000410020.8:c.6025C>T MANE Select	ENSP00000386881.3:p.Pro2009Ser
ENST00000258104.7:c.5908C>T	ENSP00000258104.3:p.Pro1970Ser
ENST00000394120.6:c.5911C>T	ENSP00000377678.2:p.Pro1971Ser
ENST00000409366.5:c.5974C>T	ENSP00000386512.1:p.Pro1992Ser
ENST00000409582.7:c.6022C>T	ENSP00000386547.3:p.Pro2008Ser
ENST00000409651.5:c.6004C>T	ENSP00000386683.1:p.Pro2002Ser
ENST00000409744.5:c.5932C>T	ENSP00000386285.1:p.Pro1978Ser
ENST00000409762.5:c.5959C>T	ENSP00000387137.1:p.Pro1987Ser
ENST00000410020.7:c.6025C>T	ENSP00000386881.3:p.Pro2009Ser
ENST00000410041.1:c.5962C>T	ENSP00000386617.1:p.Pro1988Ser
ENST00000413539.6:c.6001C>T	ENSP00000407046.2:p.Pro2001Ser
ENST00000429174.6:c.5971C>T	ENSP00000398305.2:p.Pro1991Ser
ENST00000479049.6:n.2793C>T
NM_001130455.1:c.5911C>T	NP_001123927.1:p.Pro1971Ser
NM_001130976.1:c.5866C>T	NP_001124448.1:p.Pro1956Ser
NM_001130977.1:c.5929C>T	NP_001124449.1:p.Pro1977Ser
NM_001130978.1:c.5971C>T	NP_001124450.1:p.Pro1991Ser
NM_001130979.1:c.6001C>T	NP_001124451.1:p.Pro2001Ser
NM_001130980.1:c.5959C>T	NP_001124452.1:p.Pro1987Ser
NM_001130981.1:c.6022C>T	NP_001124453.1:p.Pro2008Ser
NM_001130982.1:c.6004C>T	NP_001124454.1:p.Pro2002Ser
NM_001130983.1:c.5974C>T	NP_001124455.1:p.Pro1992Ser
NM_001130984.1:c.5932C>T	NP_001124456.1:p.Pro1978Ser
NM_001130985.1:c.5962C>T	NP_001124457.1:p.Pro1988Ser
NM_001130986.1:c.5869C>T	NP_001124458.1:p.Pro1957Ser
NM_001130987.1:c.6025C>T	NP_001124459.1:p.Pro2009Ser
NM_003494.3:c.5908C>T	NP_003485.1:p.Pro1970Ser
XM_005264584.3:c.6067C>T	XP_005264641.1:p.Pro2023Ser
XM_005264585.3:c.6064C>T	XP_005264642.1:p.Pro2022Ser
XM_005264584.4:c.6067C>T	XP_005264641.1:p.Pro2023Ser
XM_005264585.5:c.6064C>T	XP_005264642.1:p.Pro2022Ser
NM_001130987.2:c.6025C>T MANE Select	NP_001124459.1:p.Pro2009Ser
NM_001130455.2:c.5911C>T	NP_001123927.1:p.Pro1971Ser
NM_001130976.2:c.5866C>T	NP_001124448.1:p.Pro1956Ser
NM_001130977.2:c.5929C>T	NP_001124449.1:p.Pro1977Ser
NM_001130978.2:c.5971C>T	NP_001124450.1:p.Pro1991Ser
NM_001130979.2:c.6001C>T	NP_001124451.1:p.Pro2001Ser
NM_001130980.2:c.5959C>T	NP_001124452.1:p.Pro1987Ser
NM_001130981.2:c.6022C>T	NP_001124453.1:p.Pro2008Ser
NM_001130982.2:c.6004C>T	NP_001124454.1:p.Pro2002Ser
NM_001130983.2:c.5974C>T	NP_001124455.1:p.Pro1992Ser
NM_001130984.2:c.5932C>T	NP_001124456.1:p.Pro1978Ser
NM_001130985.2:c.5962C>T	NP_001124457.1:p.Pro1988Ser
NM_001130986.2:c.5869C>T	NP_001124458.1:p.Pro1957Ser
NM_003494.4:c.5908C>T MANE Plus Clinical	NP_003485.1:p.Pro1970Ser