Canonical Allele Identifier: CA1707698

Gene: DYSF

Linked Data

• dbSNP Id: rs776761135
• ExAC: 2:71913614 T / G
• gnomAD v2: 2-71913614-T-G
• MyVariant Identifiers: chr2:g.71913614T>G (hg19) ; chr2:g.71686484T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686484T>G , CM000664.2:g.71686484T>G	GRCh38
NC_000002.11:g.71913614T>G , CM000664.1:g.71913614T>G	GRCh37
NC_000002.10:g.71767122T>G	NCBI36
NG_008694.1:g.237862T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3766T>G	ENSP00000513536.1:p.Phe1256Val
ENST00000698058.1:c.2983T>G	ENSP00000513537.1:p.Phe995Val
ENST00000698059.1:c.3091T>G	ENSP00000513538.1:p.Phe1031Val
ENST00000258104.8:c.6235T>G MANE Plus Clinical	ENSP00000258104.3:p.Phe2079Val
ENST00000410020.8:c.6352T>G MANE Select	ENSP00000386881.3:p.Phe2118Val
ENST00000258104.7:c.6235T>G	ENSP00000258104.3:p.Phe2079Val
ENST00000394120.6:c.6238T>G	ENSP00000377678.2:p.Phe2080Val
ENST00000409366.5:c.6301T>G	ENSP00000386512.1:p.Phe2101Val
ENST00000409582.7:c.6349T>G	ENSP00000386547.3:p.Phe2117Val
ENST00000409651.5:c.6331T>G	ENSP00000386683.1:p.Phe2111Val
ENST00000409744.5:c.6259T>G	ENSP00000386285.1:p.Phe2087Val
ENST00000409762.5:c.6286T>G	ENSP00000387137.1:p.Phe2096Val
ENST00000410020.7:c.6352T>G	ENSP00000386881.3:p.Phe2118Val
ENST00000410041.1:c.6289T>G	ENSP00000386617.1:p.Phe2097Val
ENST00000413539.6:c.6328T>G	ENSP00000407046.2:p.Phe2110Val
ENST00000429174.6:c.6298T>G	ENSP00000398305.2:p.Phe2100Val
ENST00000479049.6:n.3120T>G
NM_001130455.1:c.6238T>G	NP_001123927.1:p.Phe2080Val
NM_001130976.1:c.6193T>G	NP_001124448.1:p.Phe2065Val
NM_001130977.1:c.6256T>G	NP_001124449.1:p.Phe2086Val
NM_001130978.1:c.6298T>G	NP_001124450.1:p.Phe2100Val
NM_001130979.1:c.6328T>G	NP_001124451.1:p.Phe2110Val
NM_001130980.1:c.6286T>G	NP_001124452.1:p.Phe2096Val
NM_001130981.1:c.6349T>G	NP_001124453.1:p.Phe2117Val
NM_001130982.1:c.6331T>G	NP_001124454.1:p.Phe2111Val
NM_001130983.1:c.6301T>G	NP_001124455.1:p.Phe2101Val
NM_001130984.1:c.6259T>G	NP_001124456.1:p.Phe2087Val
NM_001130985.1:c.6289T>G	NP_001124457.1:p.Phe2097Val
NM_001130986.1:c.6196T>G	NP_001124458.1:p.Phe2066Val
NM_001130987.1:c.6352T>G	NP_001124459.1:p.Phe2118Val
NM_003494.3:c.6235T>G	NP_003485.1:p.Phe2079Val
XM_005264584.3:c.6394T>G	XP_005264641.1:p.Phe2132Val
XM_005264585.3:c.6391T>G	XP_005264642.1:p.Phe2131Val
XM_005264584.4:c.6394T>G	XP_005264641.1:p.Phe2132Val
XM_005264585.5:c.6391T>G	XP_005264642.1:p.Phe2131Val
NM_001130987.2:c.6352T>G MANE Select	NP_001124459.1:p.Phe2118Val
NM_001130455.2:c.6238T>G	NP_001123927.1:p.Phe2080Val
NM_001130976.2:c.6193T>G	NP_001124448.1:p.Phe2065Val
NM_001130977.2:c.6256T>G	NP_001124449.1:p.Phe2086Val
NM_001130978.2:c.6298T>G	NP_001124450.1:p.Phe2100Val
NM_001130979.2:c.6328T>G	NP_001124451.1:p.Phe2110Val
NM_001130980.2:c.6286T>G	NP_001124452.1:p.Phe2096Val
NM_001130981.2:c.6349T>G	NP_001124453.1:p.Phe2117Val
NM_001130982.2:c.6331T>G	NP_001124454.1:p.Phe2111Val
NM_001130983.2:c.6301T>G	NP_001124455.1:p.Phe2101Val
NM_001130984.2:c.6259T>G	NP_001124456.1:p.Phe2087Val
NM_001130985.2:c.6289T>G	NP_001124457.1:p.Phe2097Val
NM_001130986.2:c.6196T>G	NP_001124458.1:p.Phe2066Val
NM_003494.4:c.6235T>G MANE Plus Clinical	NP_003485.1:p.Phe2079Val