Canonical Allele Identifier: CA426704459

Gene: DYSF

Linked Data

• ClinVar Variation Id: 2909093
• ClinVar RCV Id: RCV003737355
• dbSNP Id: rs2095073388
• gnomAD v4: 2-71669199-T-C
• MyVariant Identifiers: chr2:g.71896329T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669199T>C , CM000664.2:g.71669199T>C	GRCh38
NC_000002.11:g.71896329T>C , CM000664.1:g.71896329T>C	GRCh37
NC_000002.10:g.71749837T>C	NCBI36
NG_008694.1:g.220577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3048T>C	ENSP00000513536.1:p.Tyr1016=
ENST00000698058.1:c.2265T>C	ENSP00000513537.1:p.Tyr755=
ENST00000698059.1:c.2373T>C	ENSP00000513538.1:p.Tyr791=
ENST00000258104.8:c.5517T>C MANE Plus Clinical	ENSP00000258104.3:p.Tyr1839=
ENST00000410020.8:c.5634T>C MANE Select	ENSP00000386881.3:p.Tyr1878=
ENST00000258104.7:c.5517T>C	ENSP00000258104.3:p.Tyr1839=
ENST00000394120.6:c.5520T>C	ENSP00000377678.2:p.Tyr1840=
ENST00000409366.5:c.5583T>C	ENSP00000386512.1:p.Tyr1861=
ENST00000409582.7:c.5631T>C	ENSP00000386547.3:p.Tyr1877=
ENST00000409651.5:c.5613T>C	ENSP00000386683.1:p.Tyr1871=
ENST00000409744.5:c.5541T>C	ENSP00000386285.1:p.Tyr1847=
ENST00000409762.5:c.5568T>C	ENSP00000387137.1:p.Tyr1856=
ENST00000410020.7:c.5634T>C	ENSP00000386881.3:p.Tyr1878=
ENST00000410041.1:c.5571T>C	ENSP00000386617.1:p.Tyr1857=
ENST00000413539.6:c.5610T>C	ENSP00000407046.2:p.Tyr1870=
ENST00000429174.6:c.5580T>C	ENSP00000398305.2:p.Tyr1860=
ENST00000479049.6:n.2402T>C
NM_001130455.1:c.5520T>C	NP_001123927.1:p.Tyr1840=
NM_001130976.1:c.5475T>C	NP_001124448.1:p.Tyr1825=
NM_001130977.1:c.5538T>C	NP_001124449.1:p.Tyr1846=
NM_001130978.1:c.5580T>C	NP_001124450.1:p.Tyr1860=
NM_001130979.1:c.5610T>C	NP_001124451.1:p.Tyr1870=
NM_001130980.1:c.5568T>C	NP_001124452.1:p.Tyr1856=
NM_001130981.1:c.5631T>C	NP_001124453.1:p.Tyr1877=
NM_001130982.1:c.5613T>C	NP_001124454.1:p.Tyr1871=
NM_001130983.1:c.5583T>C	NP_001124455.1:p.Tyr1861=
NM_001130984.1:c.5541T>C	NP_001124456.1:p.Tyr1847=
NM_001130985.1:c.5571T>C	NP_001124457.1:p.Tyr1857=
NM_001130986.1:c.5478T>C	NP_001124458.1:p.Tyr1826=
NM_001130987.1:c.5634T>C	NP_001124459.1:p.Tyr1878=
NM_003494.3:c.5517T>C	NP_003485.1:p.Tyr1839=
XM_005264584.3:c.5676T>C	XP_005264641.1:p.Tyr1892=
XM_005264585.3:c.5673T>C	XP_005264642.1:p.Tyr1891=
XM_005264584.4:c.5676T>C	XP_005264641.1:p.Tyr1892=
XM_005264585.5:c.5673T>C	XP_005264642.1:p.Tyr1891=
NM_001130987.2:c.5634T>C MANE Select	NP_001124459.1:p.Tyr1878=
NM_001130455.2:c.5520T>C	NP_001123927.1:p.Tyr1840=
NM_001130976.2:c.5475T>C	NP_001124448.1:p.Tyr1825=
NM_001130977.2:c.5538T>C	NP_001124449.1:p.Tyr1846=
NM_001130978.2:c.5580T>C	NP_001124450.1:p.Tyr1860=
NM_001130979.2:c.5610T>C	NP_001124451.1:p.Tyr1870=
NM_001130980.2:c.5568T>C	NP_001124452.1:p.Tyr1856=
NM_001130981.2:c.5631T>C	NP_001124453.1:p.Tyr1877=
NM_001130982.2:c.5613T>C	NP_001124454.1:p.Tyr1871=
NM_001130983.2:c.5583T>C	NP_001124455.1:p.Tyr1861=
NM_001130984.2:c.5541T>C	NP_001124456.1:p.Tyr1847=
NM_001130985.2:c.5571T>C	NP_001124457.1:p.Tyr1857=
NM_001130986.2:c.5478T>C	NP_001124458.1:p.Tyr1826=
NM_003494.4:c.5517T>C MANE Plus Clinical	NP_003485.1:p.Tyr1839=