Canonical Allele Identifier: CA347227905

Gene: DYSF

Linked Data

• gnomAD v4: 2-71686481-C-T
• MyVariant Identifiers: chr2:g.71913611C>T (hg19) ; chr2:g.71686481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686481C>T , CM000664.2:g.71686481C>T	GRCh38
NC_000002.11:g.71913611C>T , CM000664.1:g.71913611C>T	GRCh37
NC_000002.10:g.71767119C>T	NCBI36
NG_008694.1:g.237859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3763C>T	ENSP00000513536.1:p.Pro1255Ser
ENST00000698058.1:c.2980C>T	ENSP00000513537.1:p.Pro994Ser
ENST00000698059.1:c.3088C>T	ENSP00000513538.1:p.Pro1030Ser
ENST00000258104.8:c.6232C>T MANE Plus Clinical	ENSP00000258104.3:p.Pro2078Ser
ENST00000410020.8:c.6349C>T MANE Select	ENSP00000386881.3:p.Pro2117Ser
ENST00000258104.7:c.6232C>T	ENSP00000258104.3:p.Pro2078Ser
ENST00000394120.6:c.6235C>T	ENSP00000377678.2:p.Pro2079Ser
ENST00000409366.5:c.6298C>T	ENSP00000386512.1:p.Pro2100Ser
ENST00000409582.7:c.6346C>T	ENSP00000386547.3:p.Pro2116Ser
ENST00000409651.5:c.6328C>T	ENSP00000386683.1:p.Pro2110Ser
ENST00000409744.5:c.6256C>T	ENSP00000386285.1:p.Pro2086Ser
ENST00000409762.5:c.6283C>T	ENSP00000387137.1:p.Pro2095Ser
ENST00000410020.7:c.6349C>T	ENSP00000386881.3:p.Pro2117Ser
ENST00000410041.1:c.6286C>T	ENSP00000386617.1:p.Pro2096Ser
ENST00000413539.6:c.6325C>T	ENSP00000407046.2:p.Pro2109Ser
ENST00000429174.6:c.6295C>T	ENSP00000398305.2:p.Pro2099Ser
ENST00000479049.6:n.3117C>T
NM_001130455.1:c.6235C>T	NP_001123927.1:p.Pro2079Ser
NM_001130976.1:c.6190C>T	NP_001124448.1:p.Pro2064Ser
NM_001130977.1:c.6253C>T	NP_001124449.1:p.Pro2085Ser
NM_001130978.1:c.6295C>T	NP_001124450.1:p.Pro2099Ser
NM_001130979.1:c.6325C>T	NP_001124451.1:p.Pro2109Ser
NM_001130980.1:c.6283C>T	NP_001124452.1:p.Pro2095Ser
NM_001130981.1:c.6346C>T	NP_001124453.1:p.Pro2116Ser
NM_001130982.1:c.6328C>T	NP_001124454.1:p.Pro2110Ser
NM_001130983.1:c.6298C>T	NP_001124455.1:p.Pro2100Ser
NM_001130984.1:c.6256C>T	NP_001124456.1:p.Pro2086Ser
NM_001130985.1:c.6286C>T	NP_001124457.1:p.Pro2096Ser
NM_001130986.1:c.6193C>T	NP_001124458.1:p.Pro2065Ser
NM_001130987.1:c.6349C>T	NP_001124459.1:p.Pro2117Ser
NM_003494.3:c.6232C>T	NP_003485.1:p.Pro2078Ser
XM_005264584.3:c.6391C>T	XP_005264641.1:p.Pro2131Ser
XM_005264585.3:c.6388C>T	XP_005264642.1:p.Pro2130Ser
XM_005264584.4:c.6391C>T	XP_005264641.1:p.Pro2131Ser
XM_005264585.5:c.6388C>T	XP_005264642.1:p.Pro2130Ser
NM_001130987.2:c.6349C>T MANE Select	NP_001124459.1:p.Pro2117Ser
NM_001130455.2:c.6235C>T	NP_001123927.1:p.Pro2079Ser
NM_001130976.2:c.6190C>T	NP_001124448.1:p.Pro2064Ser
NM_001130977.2:c.6253C>T	NP_001124449.1:p.Pro2085Ser
NM_001130978.2:c.6295C>T	NP_001124450.1:p.Pro2099Ser
NM_001130979.2:c.6325C>T	NP_001124451.1:p.Pro2109Ser
NM_001130980.2:c.6283C>T	NP_001124452.1:p.Pro2095Ser
NM_001130981.2:c.6346C>T	NP_001124453.1:p.Pro2116Ser
NM_001130982.2:c.6328C>T	NP_001124454.1:p.Pro2110Ser
NM_001130983.2:c.6298C>T	NP_001124455.1:p.Pro2100Ser
NM_001130984.2:c.6256C>T	NP_001124456.1:p.Pro2086Ser
NM_001130985.2:c.6286C>T	NP_001124457.1:p.Pro2096Ser
NM_001130986.2:c.6193C>T	NP_001124458.1:p.Pro2065Ser
NM_003494.4:c.6232C>T MANE Plus Clinical	NP_003485.1:p.Pro2078Ser