Canonical Allele Identifier: CA10606170

Gene: DYSF

Linked Data

• ClinVar Variation Id: 288647
• ClinVar RCV Id: RCV000371436 ; RCV003574728 ; RCV003469245
• dbSNP Id: rs886043966
• gnomAD v4: 2-71669608-G-A
• MyVariant Identifiers: chr2:g.71896738G>A (hg19) ; chr2:g.71669608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669608G>A , CM000664.2:g.71669608G>A	GRCh38
NC_000002.11:g.71896738G>A , CM000664.1:g.71896738G>A	GRCh37
NC_000002.10:g.71750246G>A	NCBI36
NG_008694.1:g.220986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3060G>A	ENSP00000513536.1:p.Trp1020Ter
ENST00000698058.1:c.2277G>A	ENSP00000513537.1:p.Trp759Ter
ENST00000698059.1:c.2385G>A	ENSP00000513538.1:p.Trp795Ter
ENST00000258104.8:c.5529G>A MANE Plus Clinical	ENSP00000258104.3:p.Trp1843Ter
ENST00000410020.8:c.5646G>A MANE Select	ENSP00000386881.3:p.Trp1882Ter
ENST00000258104.7:c.5529G>A	ENSP00000258104.3:p.Trp1843Ter
ENST00000394120.6:c.5532G>A	ENSP00000377678.2:p.Trp1844Ter
ENST00000409366.5:c.5595G>A	ENSP00000386512.1:p.Trp1865Ter
ENST00000409582.7:c.5643G>A	ENSP00000386547.3:p.Trp1881Ter
ENST00000409651.5:c.5625G>A	ENSP00000386683.1:p.Trp1875Ter
ENST00000409744.5:c.5553G>A	ENSP00000386285.1:p.Trp1851Ter
ENST00000409762.5:c.5580G>A	ENSP00000387137.1:p.Trp1860Ter
ENST00000410020.7:c.5646G>A	ENSP00000386881.3:p.Trp1882Ter
ENST00000410041.1:c.5583G>A	ENSP00000386617.1:p.Trp1861Ter
ENST00000413539.6:c.5622G>A	ENSP00000407046.2:p.Trp1874Ter
ENST00000429174.6:c.5592G>A	ENSP00000398305.2:p.Trp1864Ter
ENST00000479049.6:n.2414G>A
NM_001130455.1:c.5532G>A	NP_001123927.1:p.Trp1844Ter
NM_001130976.1:c.5487G>A	NP_001124448.1:p.Trp1829Ter
NM_001130977.1:c.5550G>A	NP_001124449.1:p.Trp1850Ter
NM_001130978.1:c.5592G>A	NP_001124450.1:p.Trp1864Ter
NM_001130979.1:c.5622G>A	NP_001124451.1:p.Trp1874Ter
NM_001130980.1:c.5580G>A	NP_001124452.1:p.Trp1860Ter
NM_001130981.1:c.5643G>A	NP_001124453.1:p.Trp1881Ter
NM_001130982.1:c.5625G>A	NP_001124454.1:p.Trp1875Ter
NM_001130983.1:c.5595G>A	NP_001124455.1:p.Trp1865Ter
NM_001130984.1:c.5553G>A	NP_001124456.1:p.Trp1851Ter
NM_001130985.1:c.5583G>A	NP_001124457.1:p.Trp1861Ter
NM_001130986.1:c.5490G>A	NP_001124458.1:p.Trp1830Ter
NM_001130987.1:c.5646G>A	NP_001124459.1:p.Trp1882Ter
NM_003494.3:c.5529G>A	NP_003485.1:p.Trp1843Ter
XM_005264584.3:c.5688G>A	XP_005264641.1:p.Trp1896Ter
XM_005264585.3:c.5685G>A	XP_005264642.1:p.Trp1895Ter
XM_005264584.4:c.5688G>A	XP_005264641.1:p.Trp1896Ter
XM_005264585.5:c.5685G>A	XP_005264642.1:p.Trp1895Ter
NM_001130987.2:c.5646G>A MANE Select	NP_001124459.1:p.Trp1882Ter
NM_001130455.2:c.5532G>A	NP_001123927.1:p.Trp1844Ter
NM_001130976.2:c.5487G>A	NP_001124448.1:p.Trp1829Ter
NM_001130977.2:c.5550G>A	NP_001124449.1:p.Trp1850Ter
NM_001130978.2:c.5592G>A	NP_001124450.1:p.Trp1864Ter
NM_001130979.2:c.5622G>A	NP_001124451.1:p.Trp1874Ter
NM_001130980.2:c.5580G>A	NP_001124452.1:p.Trp1860Ter
NM_001130981.2:c.5643G>A	NP_001124453.1:p.Trp1881Ter
NM_001130982.2:c.5625G>A	NP_001124454.1:p.Trp1875Ter
NM_001130983.2:c.5595G>A	NP_001124455.1:p.Trp1865Ter
NM_001130984.2:c.5553G>A	NP_001124456.1:p.Trp1851Ter
NM_001130985.2:c.5583G>A	NP_001124457.1:p.Trp1861Ter
NM_001130986.2:c.5490G>A	NP_001124458.1:p.Trp1830Ter
NM_003494.4:c.5529G>A MANE Plus Clinical	NP_003485.1:p.Trp1843Ter