Canonical Allele Identifier: CA49779629

Gene: DYSF

Linked Data

• dbSNP Id: rs916583386
• gnomAD v4: 2-71686470-A-G
• MyVariant Identifiers: chr2:g.71913600A>G (hg19) ; chr2:g.71686470A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686470A>G , CM000664.2:g.71686470A>G	GRCh38
NC_000002.11:g.71913600A>G , CM000664.1:g.71913600A>G	GRCh37
NC_000002.10:g.71767108A>G	NCBI36
NG_008694.1:g.237848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3752A>G	ENSP00000513536.1:p.Lys1251Arg
ENST00000698058.1:c.2969A>G	ENSP00000513537.1:p.Lys990Arg
ENST00000698059.1:c.3077A>G	ENSP00000513538.1:p.Lys1026Arg
ENST00000258104.8:c.6221A>G MANE Plus Clinical	ENSP00000258104.3:p.Lys2074Arg
ENST00000410020.8:c.6338A>G MANE Select	ENSP00000386881.3:p.Lys2113Arg
ENST00000258104.7:c.6221A>G	ENSP00000258104.3:p.Lys2074Arg
ENST00000394120.6:c.6224A>G	ENSP00000377678.2:p.Lys2075Arg
ENST00000409366.5:c.6287A>G	ENSP00000386512.1:p.Lys2096Arg
ENST00000409582.7:c.6335A>G	ENSP00000386547.3:p.Lys2112Arg
ENST00000409651.5:c.6317A>G	ENSP00000386683.1:p.Lys2106Arg
ENST00000409744.5:c.6245A>G	ENSP00000386285.1:p.Lys2082Arg
ENST00000409762.5:c.6272A>G	ENSP00000387137.1:p.Lys2091Arg
ENST00000410020.7:c.6338A>G	ENSP00000386881.3:p.Lys2113Arg
ENST00000410041.1:c.6275A>G	ENSP00000386617.1:p.Lys2092Arg
ENST00000413539.6:c.6314A>G	ENSP00000407046.2:p.Lys2105Arg
ENST00000429174.6:c.6284A>G	ENSP00000398305.2:p.Lys2095Arg
ENST00000479049.6:n.3106A>G
NM_001130455.1:c.6224A>G	NP_001123927.1:p.Lys2075Arg
NM_001130976.1:c.6179A>G	NP_001124448.1:p.Lys2060Arg
NM_001130977.1:c.6242A>G	NP_001124449.1:p.Lys2081Arg
NM_001130978.1:c.6284A>G	NP_001124450.1:p.Lys2095Arg
NM_001130979.1:c.6314A>G	NP_001124451.1:p.Lys2105Arg
NM_001130980.1:c.6272A>G	NP_001124452.1:p.Lys2091Arg
NM_001130981.1:c.6335A>G	NP_001124453.1:p.Lys2112Arg
NM_001130982.1:c.6317A>G	NP_001124454.1:p.Lys2106Arg
NM_001130983.1:c.6287A>G	NP_001124455.1:p.Lys2096Arg
NM_001130984.1:c.6245A>G	NP_001124456.1:p.Lys2082Arg
NM_001130985.1:c.6275A>G	NP_001124457.1:p.Lys2092Arg
NM_001130986.1:c.6182A>G	NP_001124458.1:p.Lys2061Arg
NM_001130987.1:c.6338A>G	NP_001124459.1:p.Lys2113Arg
NM_003494.3:c.6221A>G	NP_003485.1:p.Lys2074Arg
XM_005264584.3:c.6380A>G	XP_005264641.1:p.Lys2127Arg
XM_005264585.3:c.6377A>G	XP_005264642.1:p.Lys2126Arg
XM_005264584.4:c.6380A>G	XP_005264641.1:p.Lys2127Arg
XM_005264585.5:c.6377A>G	XP_005264642.1:p.Lys2126Arg
NM_001130987.2:c.6338A>G MANE Select	NP_001124459.1:p.Lys2113Arg
NM_001130455.2:c.6224A>G	NP_001123927.1:p.Lys2075Arg
NM_001130976.2:c.6179A>G	NP_001124448.1:p.Lys2060Arg
NM_001130977.2:c.6242A>G	NP_001124449.1:p.Lys2081Arg
NM_001130978.2:c.6284A>G	NP_001124450.1:p.Lys2095Arg
NM_001130979.2:c.6314A>G	NP_001124451.1:p.Lys2105Arg
NM_001130980.2:c.6272A>G	NP_001124452.1:p.Lys2091Arg
NM_001130981.2:c.6335A>G	NP_001124453.1:p.Lys2112Arg
NM_001130982.2:c.6317A>G	NP_001124454.1:p.Lys2106Arg
NM_001130983.2:c.6287A>G	NP_001124455.1:p.Lys2096Arg
NM_001130984.2:c.6245A>G	NP_001124456.1:p.Lys2082Arg
NM_001130985.2:c.6275A>G	NP_001124457.1:p.Lys2092Arg
NM_001130986.2:c.6182A>G	NP_001124458.1:p.Lys2061Arg
NM_003494.4:c.6221A>G MANE Plus Clinical	NP_003485.1:p.Lys2074Arg