Canonical Allele Identifier: CA347222072

Gene: DYSF

Linked Data

• gnomAD v4: 2-71669115-T-G
• MyVariant Identifiers: chr2:g.71896245T>G (hg19) ; chr2:g.71669115T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669115T>G , CM000664.2:g.71669115T>G	GRCh38
NC_000002.11:g.71896245T>G , CM000664.1:g.71896245T>G	GRCh37
NC_000002.10:g.71749753T>G	NCBI36
NG_008694.1:g.220493T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2964T>G	ENSP00000513536.1:p.Phe988Leu
ENST00000698058.1:c.2181T>G	ENSP00000513537.1:p.Phe727Leu
ENST00000698059.1:c.2289T>G	ENSP00000513538.1:p.Phe763Leu
ENST00000258104.8:c.5433T>G MANE Plus Clinical	ENSP00000258104.3:p.Phe1811Leu
ENST00000410020.8:c.5550T>G MANE Select	ENSP00000386881.3:p.Phe1850Leu
ENST00000258104.7:c.5433T>G	ENSP00000258104.3:p.Phe1811Leu
ENST00000394120.6:c.5436T>G	ENSP00000377678.2:p.Phe1812Leu
ENST00000409366.5:c.5499T>G	ENSP00000386512.1:p.Phe1833Leu
ENST00000409582.7:c.5547T>G	ENSP00000386547.3:p.Phe1849Leu
ENST00000409651.5:c.5529T>G	ENSP00000386683.1:p.Phe1843Leu
ENST00000409744.5:c.5457T>G	ENSP00000386285.1:p.Phe1819Leu
ENST00000409762.5:c.5484T>G	ENSP00000387137.1:p.Phe1828Leu
ENST00000410020.7:c.5550T>G	ENSP00000386881.3:p.Phe1850Leu
ENST00000410041.1:c.5487T>G	ENSP00000386617.1:p.Phe1829Leu
ENST00000413539.6:c.5526T>G	ENSP00000407046.2:p.Phe1842Leu
ENST00000429174.6:c.5496T>G	ENSP00000398305.2:p.Phe1832Leu
ENST00000479049.6:n.2318T>G
NM_001130455.1:c.5436T>G	NP_001123927.1:p.Phe1812Leu
NM_001130976.1:c.5391T>G	NP_001124448.1:p.Phe1797Leu
NM_001130977.1:c.5454T>G	NP_001124449.1:p.Phe1818Leu
NM_001130978.1:c.5496T>G	NP_001124450.1:p.Phe1832Leu
NM_001130979.1:c.5526T>G	NP_001124451.1:p.Phe1842Leu
NM_001130980.1:c.5484T>G	NP_001124452.1:p.Phe1828Leu
NM_001130981.1:c.5547T>G	NP_001124453.1:p.Phe1849Leu
NM_001130982.1:c.5529T>G	NP_001124454.1:p.Phe1843Leu
NM_001130983.1:c.5499T>G	NP_001124455.1:p.Phe1833Leu
NM_001130984.1:c.5457T>G	NP_001124456.1:p.Phe1819Leu
NM_001130985.1:c.5487T>G	NP_001124457.1:p.Phe1829Leu
NM_001130986.1:c.5394T>G	NP_001124458.1:p.Phe1798Leu
NM_001130987.1:c.5550T>G	NP_001124459.1:p.Phe1850Leu
NM_003494.3:c.5433T>G	NP_003485.1:p.Phe1811Leu
XM_005264584.3:c.5592T>G	XP_005264641.1:p.Phe1864Leu
XM_005264585.3:c.5589T>G	XP_005264642.1:p.Phe1863Leu
XM_005264584.4:c.5592T>G	XP_005264641.1:p.Phe1864Leu
XM_005264585.5:c.5589T>G	XP_005264642.1:p.Phe1863Leu
NM_001130987.2:c.5550T>G MANE Select	NP_001124459.1:p.Phe1850Leu
NM_001130455.2:c.5436T>G	NP_001123927.1:p.Phe1812Leu
NM_001130976.2:c.5391T>G	NP_001124448.1:p.Phe1797Leu
NM_001130977.2:c.5454T>G	NP_001124449.1:p.Phe1818Leu
NM_001130978.2:c.5496T>G	NP_001124450.1:p.Phe1832Leu
NM_001130979.2:c.5526T>G	NP_001124451.1:p.Phe1842Leu
NM_001130980.2:c.5484T>G	NP_001124452.1:p.Phe1828Leu
NM_001130981.2:c.5547T>G	NP_001124453.1:p.Phe1849Leu
NM_001130982.2:c.5529T>G	NP_001124454.1:p.Phe1843Leu
NM_001130983.2:c.5499T>G	NP_001124455.1:p.Phe1833Leu
NM_001130984.2:c.5457T>G	NP_001124456.1:p.Phe1819Leu
NM_001130985.2:c.5487T>G	NP_001124457.1:p.Phe1829Leu
NM_001130986.2:c.5394T>G	NP_001124458.1:p.Phe1798Leu
NM_003494.4:c.5433T>G MANE Plus Clinical	NP_003485.1:p.Phe1811Leu