Canonical Allele Identifier: CA347217868

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71871123A>G (hg19) ; chr2:g.71643993A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71643993A>G , CM000664.2:g.71643993A>G	GRCh38
NC_000002.11:g.71871123A>G , CM000664.1:g.71871123A>G	GRCh37
NC_000002.10:g.71724631A>G	NCBI36
NG_008694.1:g.195371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1970A>G	ENSP00000513536.1:p.Lys657Arg
ENST00000698058.1:c.1187A>G	ENSP00000513537.1:p.Lys396Arg
ENST00000698059.1:c.1295A>G	ENSP00000513538.1:p.Lys432Arg
ENST00000258104.8:c.4439A>G MANE Plus Clinical	ENSP00000258104.3:p.Lys1480Arg
ENST00000410020.8:c.4556A>G MANE Select	ENSP00000386881.3:p.Lys1519Arg
ENST00000258104.7:c.4439A>G	ENSP00000258104.3:p.Lys1480Arg
ENST00000394120.6:c.4442A>G	ENSP00000377678.2:p.Lys1481Arg
ENST00000409366.5:c.4505A>G	ENSP00000386512.1:p.Lys1502Arg
ENST00000409582.7:c.4553A>G	ENSP00000386547.3:p.Lys1518Arg
ENST00000409651.5:c.4535A>G	ENSP00000386683.1:p.Lys1512Arg
ENST00000409744.5:c.4463A>G	ENSP00000386285.1:p.Lys1488Arg
ENST00000409762.5:c.4490A>G	ENSP00000387137.1:p.Lys1497Arg
ENST00000410020.7:c.4556A>G	ENSP00000386881.3:p.Lys1519Arg
ENST00000410041.1:c.4493A>G	ENSP00000386617.1:p.Lys1498Arg
ENST00000413539.6:c.4532A>G	ENSP00000407046.2:p.Lys1511Arg
ENST00000429174.6:c.4502A>G	ENSP00000398305.2:p.Lys1501Arg
ENST00000468173.1:n.738A>G
ENST00000479049.6:n.1324A>G
NM_001130455.1:c.4442A>G	NP_001123927.1:p.Lys1481Arg
NM_001130976.1:c.4397A>G	NP_001124448.1:p.Lys1466Arg
NM_001130977.1:c.4460A>G	NP_001124449.1:p.Lys1487Arg
NM_001130978.1:c.4502A>G	NP_001124450.1:p.Lys1501Arg
NM_001130979.1:c.4532A>G	NP_001124451.1:p.Lys1511Arg
NM_001130980.1:c.4490A>G	NP_001124452.1:p.Lys1497Arg
NM_001130981.1:c.4553A>G	NP_001124453.1:p.Lys1518Arg
NM_001130982.1:c.4535A>G	NP_001124454.1:p.Lys1512Arg
NM_001130983.1:c.4505A>G	NP_001124455.1:p.Lys1502Arg
NM_001130984.1:c.4463A>G	NP_001124456.1:p.Lys1488Arg
NM_001130985.1:c.4493A>G	NP_001124457.1:p.Lys1498Arg
NM_001130986.1:c.4400A>G	NP_001124458.1:p.Lys1467Arg
NM_001130987.1:c.4556A>G	NP_001124459.1:p.Lys1519Arg
NM_003494.3:c.4439A>G	NP_003485.1:p.Lys1480Arg
XM_005264584.3:c.4598A>G	XP_005264641.1:p.Lys1533Arg
XM_005264585.3:c.4595A>G	XP_005264642.1:p.Lys1532Arg
XM_005264584.4:c.4598A>G	XP_005264641.1:p.Lys1533Arg
XM_005264585.5:c.4595A>G	XP_005264642.1:p.Lys1532Arg
XR_001738969.1:n.4756A>G
NM_001130987.2:c.4556A>G MANE Select	NP_001124459.1:p.Lys1519Arg
NM_001130455.2:c.4442A>G	NP_001123927.1:p.Lys1481Arg
NM_001130976.2:c.4397A>G	NP_001124448.1:p.Lys1466Arg
NM_001130977.2:c.4460A>G	NP_001124449.1:p.Lys1487Arg
NM_001130978.2:c.4502A>G	NP_001124450.1:p.Lys1501Arg
NM_001130979.2:c.4532A>G	NP_001124451.1:p.Lys1511Arg
NM_001130980.2:c.4490A>G	NP_001124452.1:p.Lys1497Arg
NM_001130981.2:c.4553A>G	NP_001124453.1:p.Lys1518Arg
NM_001130982.2:c.4535A>G	NP_001124454.1:p.Lys1512Arg
NM_001130983.2:c.4505A>G	NP_001124455.1:p.Lys1502Arg
NM_001130984.2:c.4463A>G	NP_001124456.1:p.Lys1488Arg
NM_001130985.2:c.4493A>G	NP_001124457.1:p.Lys1498Arg
NM_001130986.2:c.4400A>G	NP_001124458.1:p.Lys1467Arg
NM_003494.4:c.4439A>G MANE Plus Clinical	NP_003485.1:p.Lys1480Arg