Canonical Allele Identifier: CA347217883

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71871126T>C (hg19) ; chr2:g.71643996T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71643996T>C , CM000664.2:g.71643996T>C	GRCh38
NC_000002.11:g.71871126T>C , CM000664.1:g.71871126T>C	GRCh37
NC_000002.10:g.71724634T>C	NCBI36
NG_008694.1:g.195374T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1973T>C	ENSP00000513536.1:p.Phe658Ser
ENST00000698058.1:c.1190T>C	ENSP00000513537.1:p.Phe397Ser
ENST00000698059.1:c.1298T>C	ENSP00000513538.1:p.Phe433Ser
ENST00000258104.8:c.4442T>C MANE Plus Clinical	ENSP00000258104.3:p.Phe1481Ser
ENST00000410020.8:c.4559T>C MANE Select	ENSP00000386881.3:p.Phe1520Ser
ENST00000258104.7:c.4442T>C	ENSP00000258104.3:p.Phe1481Ser
ENST00000394120.6:c.4445T>C	ENSP00000377678.2:p.Phe1482Ser
ENST00000409366.5:c.4508T>C	ENSP00000386512.1:p.Phe1503Ser
ENST00000409582.7:c.4556T>C	ENSP00000386547.3:p.Phe1519Ser
ENST00000409651.5:c.4538T>C	ENSP00000386683.1:p.Phe1513Ser
ENST00000409744.5:c.4466T>C	ENSP00000386285.1:p.Phe1489Ser
ENST00000409762.5:c.4493T>C	ENSP00000387137.1:p.Phe1498Ser
ENST00000410020.7:c.4559T>C	ENSP00000386881.3:p.Phe1520Ser
ENST00000410041.1:c.4496T>C	ENSP00000386617.1:p.Phe1499Ser
ENST00000413539.6:c.4535T>C	ENSP00000407046.2:p.Phe1512Ser
ENST00000429174.6:c.4505T>C	ENSP00000398305.2:p.Phe1502Ser
ENST00000468173.1:n.741T>C
ENST00000479049.6:n.1327T>C
NM_001130455.1:c.4445T>C	NP_001123927.1:p.Phe1482Ser
NM_001130976.1:c.4400T>C	NP_001124448.1:p.Phe1467Ser
NM_001130977.1:c.4463T>C	NP_001124449.1:p.Phe1488Ser
NM_001130978.1:c.4505T>C	NP_001124450.1:p.Phe1502Ser
NM_001130979.1:c.4535T>C	NP_001124451.1:p.Phe1512Ser
NM_001130980.1:c.4493T>C	NP_001124452.1:p.Phe1498Ser
NM_001130981.1:c.4556T>C	NP_001124453.1:p.Phe1519Ser
NM_001130982.1:c.4538T>C	NP_001124454.1:p.Phe1513Ser
NM_001130983.1:c.4508T>C	NP_001124455.1:p.Phe1503Ser
NM_001130984.1:c.4466T>C	NP_001124456.1:p.Phe1489Ser
NM_001130985.1:c.4496T>C	NP_001124457.1:p.Phe1499Ser
NM_001130986.1:c.4403T>C	NP_001124458.1:p.Phe1468Ser
NM_001130987.1:c.4559T>C	NP_001124459.1:p.Phe1520Ser
NM_003494.3:c.4442T>C	NP_003485.1:p.Phe1481Ser
XM_005264584.3:c.4601T>C	XP_005264641.1:p.Phe1534Ser
XM_005264585.3:c.4598T>C	XP_005264642.1:p.Phe1533Ser
XM_005264584.4:c.4601T>C	XP_005264641.1:p.Phe1534Ser
XM_005264585.5:c.4598T>C	XP_005264642.1:p.Phe1533Ser
XR_001738969.1:n.4759T>C
NM_001130987.2:c.4559T>C MANE Select	NP_001124459.1:p.Phe1520Ser
NM_001130455.2:c.4445T>C	NP_001123927.1:p.Phe1482Ser
NM_001130976.2:c.4400T>C	NP_001124448.1:p.Phe1467Ser
NM_001130977.2:c.4463T>C	NP_001124449.1:p.Phe1488Ser
NM_001130978.2:c.4505T>C	NP_001124450.1:p.Phe1502Ser
NM_001130979.2:c.4535T>C	NP_001124451.1:p.Phe1512Ser
NM_001130980.2:c.4493T>C	NP_001124452.1:p.Phe1498Ser
NM_001130981.2:c.4556T>C	NP_001124453.1:p.Phe1519Ser
NM_001130982.2:c.4538T>C	NP_001124454.1:p.Phe1513Ser
NM_001130983.2:c.4508T>C	NP_001124455.1:p.Phe1503Ser
NM_001130984.2:c.4466T>C	NP_001124456.1:p.Phe1489Ser
NM_001130985.2:c.4496T>C	NP_001124457.1:p.Phe1499Ser
NM_001130986.2:c.4403T>C	NP_001124458.1:p.Phe1468Ser
NM_003494.4:c.4442T>C MANE Plus Clinical	NP_003485.1:p.Phe1481Ser