Canonical Allele Identifier: CA347226769

Gene: DYSF

Linked Data

• gnomAD v4: 2-71681039-T-G
• MyVariant Identifiers: chr2:g.71908169T>G (hg19) ; chr2:g.71681039T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71681039T>G , CM000664.2:g.71681039T>G	GRCh38
NC_000002.11:g.71908169T>G , CM000664.1:g.71908169T>G	GRCh37
NC_000002.10:g.71761677T>G	NCBI36
NG_008694.1:g.232417T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3516T>G	ENSP00000513536.1:p.Ser1172Arg
ENST00000698058.1:c.2733T>G	ENSP00000513537.1:p.Ser911Arg
ENST00000698059.1:c.2841T>G	ENSP00000513538.1:p.Ser947Arg
ENST00000258104.8:c.5985T>G MANE Plus Clinical	ENSP00000258104.3:p.Ser1995Arg
ENST00000410020.8:c.6102T>G MANE Select	ENSP00000386881.3:p.Ser2034Arg
ENST00000258104.7:c.5985T>G	ENSP00000258104.3:p.Ser1995Arg
ENST00000394120.6:c.5988T>G	ENSP00000377678.2:p.Ser1996Arg
ENST00000409366.5:c.6051T>G	ENSP00000386512.1:p.Ser2017Arg
ENST00000409582.7:c.6099T>G	ENSP00000386547.3:p.Ser2033Arg
ENST00000409651.5:c.6081T>G	ENSP00000386683.1:p.Ser2027Arg
ENST00000409744.5:c.6009T>G	ENSP00000386285.1:p.Ser2003Arg
ENST00000409762.5:c.6036T>G	ENSP00000387137.1:p.Ser2012Arg
ENST00000410020.7:c.6102T>G	ENSP00000386881.3:p.Ser2034Arg
ENST00000410041.1:c.6039T>G	ENSP00000386617.1:p.Ser2013Arg
ENST00000413539.6:c.6078T>G	ENSP00000407046.2:p.Ser2026Arg
ENST00000429174.6:c.6048T>G	ENSP00000398305.2:p.Ser2016Arg
ENST00000479049.6:n.2870T>G
NM_001130455.1:c.5988T>G	NP_001123927.1:p.Ser1996Arg
NM_001130976.1:c.5943T>G	NP_001124448.1:p.Ser1981Arg
NM_001130977.1:c.6006T>G	NP_001124449.1:p.Ser2002Arg
NM_001130978.1:c.6048T>G	NP_001124450.1:p.Ser2016Arg
NM_001130979.1:c.6078T>G	NP_001124451.1:p.Ser2026Arg
NM_001130980.1:c.6036T>G	NP_001124452.1:p.Ser2012Arg
NM_001130981.1:c.6099T>G	NP_001124453.1:p.Ser2033Arg
NM_001130982.1:c.6081T>G	NP_001124454.1:p.Ser2027Arg
NM_001130983.1:c.6051T>G	NP_001124455.1:p.Ser2017Arg
NM_001130984.1:c.6009T>G	NP_001124456.1:p.Ser2003Arg
NM_001130985.1:c.6039T>G	NP_001124457.1:p.Ser2013Arg
NM_001130986.1:c.5946T>G	NP_001124458.1:p.Ser1982Arg
NM_001130987.1:c.6102T>G	NP_001124459.1:p.Ser2034Arg
NM_003494.3:c.5985T>G	NP_003485.1:p.Ser1995Arg
XM_005264584.3:c.6144T>G	XP_005264641.1:p.Ser2048Arg
XM_005264585.3:c.6141T>G	XP_005264642.1:p.Ser2047Arg
XM_005264584.4:c.6144T>G	XP_005264641.1:p.Ser2048Arg
XM_005264585.5:c.6141T>G	XP_005264642.1:p.Ser2047Arg
NM_001130987.2:c.6102T>G MANE Select	NP_001124459.1:p.Ser2034Arg
NM_001130455.2:c.5988T>G	NP_001123927.1:p.Ser1996Arg
NM_001130976.2:c.5943T>G	NP_001124448.1:p.Ser1981Arg
NM_001130977.2:c.6006T>G	NP_001124449.1:p.Ser2002Arg
NM_001130978.2:c.6048T>G	NP_001124450.1:p.Ser2016Arg
NM_001130979.2:c.6078T>G	NP_001124451.1:p.Ser2026Arg
NM_001130980.2:c.6036T>G	NP_001124452.1:p.Ser2012Arg
NM_001130981.2:c.6099T>G	NP_001124453.1:p.Ser2033Arg
NM_001130982.2:c.6081T>G	NP_001124454.1:p.Ser2027Arg
NM_001130983.2:c.6051T>G	NP_001124455.1:p.Ser2017Arg
NM_001130984.2:c.6009T>G	NP_001124456.1:p.Ser2003Arg
NM_001130985.2:c.6039T>G	NP_001124457.1:p.Ser2013Arg
NM_001130986.2:c.5946T>G	NP_001124458.1:p.Ser1982Arg
NM_003494.4:c.5985T>G MANE Plus Clinical	NP_003485.1:p.Ser1995Arg