Canonical Allele Identifier: CA426703053

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71871130T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71644000T>C , CM000664.2:g.71644000T>C	GRCh38
NC_000002.11:g.71871130T>C , CM000664.1:g.71871130T>C	GRCh37
NC_000002.10:g.71724638T>C	NCBI36
NG_008694.1:g.195378T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1977T>C	ENSP00000513536.1:p.Phe659=
ENST00000698058.1:c.1194T>C	ENSP00000513537.1:p.Phe398=
ENST00000698059.1:c.1302T>C	ENSP00000513538.1:p.Phe434=
ENST00000258104.8:c.4446T>C MANE Plus Clinical	ENSP00000258104.3:p.Phe1482=
ENST00000410020.8:c.4563T>C MANE Select	ENSP00000386881.3:p.Phe1521=
ENST00000258104.7:c.4446T>C	ENSP00000258104.3:p.Phe1482=
ENST00000394120.6:c.4449T>C	ENSP00000377678.2:p.Phe1483=
ENST00000409366.5:c.4512T>C	ENSP00000386512.1:p.Phe1504=
ENST00000409582.7:c.4560T>C	ENSP00000386547.3:p.Phe1520=
ENST00000409651.5:c.4542T>C	ENSP00000386683.1:p.Phe1514=
ENST00000409744.5:c.4470T>C	ENSP00000386285.1:p.Phe1490=
ENST00000409762.5:c.4497T>C	ENSP00000387137.1:p.Phe1499=
ENST00000410020.7:c.4563T>C	ENSP00000386881.3:p.Phe1521=
ENST00000410041.1:c.4500T>C	ENSP00000386617.1:p.Phe1500=
ENST00000413539.6:c.4539T>C	ENSP00000407046.2:p.Phe1513=
ENST00000429174.6:c.4509T>C	ENSP00000398305.2:p.Phe1503=
ENST00000468173.1:n.745T>C
ENST00000479049.6:n.1331T>C
NM_001130455.1:c.4449T>C	NP_001123927.1:p.Phe1483=
NM_001130976.1:c.4404T>C	NP_001124448.1:p.Phe1468=
NM_001130977.1:c.4467T>C	NP_001124449.1:p.Phe1489=
NM_001130978.1:c.4509T>C	NP_001124450.1:p.Phe1503=
NM_001130979.1:c.4539T>C	NP_001124451.1:p.Phe1513=
NM_001130980.1:c.4497T>C	NP_001124452.1:p.Phe1499=
NM_001130981.1:c.4560T>C	NP_001124453.1:p.Phe1520=
NM_001130982.1:c.4542T>C	NP_001124454.1:p.Phe1514=
NM_001130983.1:c.4512T>C	NP_001124455.1:p.Phe1504=
NM_001130984.1:c.4470T>C	NP_001124456.1:p.Phe1490=
NM_001130985.1:c.4500T>C	NP_001124457.1:p.Phe1500=
NM_001130986.1:c.4407T>C	NP_001124458.1:p.Phe1469=
NM_001130987.1:c.4563T>C	NP_001124459.1:p.Phe1521=
NM_003494.3:c.4446T>C	NP_003485.1:p.Phe1482=
XM_005264584.3:c.4605T>C	XP_005264641.1:p.Phe1535=
XM_005264585.3:c.4602T>C	XP_005264642.1:p.Phe1534=
XM_005264584.4:c.4605T>C	XP_005264641.1:p.Phe1535=
XM_005264585.5:c.4602T>C	XP_005264642.1:p.Phe1534=
XR_001738969.1:n.4763T>C
NM_001130987.2:c.4563T>C MANE Select	NP_001124459.1:p.Phe1521=
NM_001130455.2:c.4449T>C	NP_001123927.1:p.Phe1483=
NM_001130976.2:c.4404T>C	NP_001124448.1:p.Phe1468=
NM_001130977.2:c.4467T>C	NP_001124449.1:p.Phe1489=
NM_001130978.2:c.4509T>C	NP_001124450.1:p.Phe1503=
NM_001130979.2:c.4539T>C	NP_001124451.1:p.Phe1513=
NM_001130980.2:c.4497T>C	NP_001124452.1:p.Phe1499=
NM_001130981.2:c.4560T>C	NP_001124453.1:p.Phe1520=
NM_001130982.2:c.4542T>C	NP_001124454.1:p.Phe1514=
NM_001130983.2:c.4512T>C	NP_001124455.1:p.Phe1504=
NM_001130984.2:c.4470T>C	NP_001124456.1:p.Phe1490=
NM_001130985.2:c.4500T>C	NP_001124457.1:p.Phe1500=
NM_001130986.2:c.4407T>C	NP_001124458.1:p.Phe1469=
NM_003494.4:c.4446T>C MANE Plus Clinical	NP_003485.1:p.Phe1482=