Canonical Allele Identifier: CA426701134

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71778202T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71551072T>C , CM000664.2:g.71551072T>C	GRCh38
NC_000002.11:g.71778202T>C , CM000664.1:g.71778202T>C	GRCh37
NC_000002.10:g.71631710T>C	NCBI36
NG_008694.1:g.102450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1554T>C MANE Plus Clinical	ENSP00000258104.3:p.Phe518=
ENST00000410020.8:c.1608T>C MANE Select	ENSP00000386881.3:p.Phe536=
ENST00000258104.7:c.1554T>C	ENSP00000258104.3:p.Phe518=
ENST00000394120.6:c.1557T>C	ENSP00000377678.2:p.Phe519=
ENST00000409366.5:c.1557T>C	ENSP00000386512.1:p.Phe519=
ENST00000409582.7:c.1605T>C	ENSP00000386547.3:p.Phe535=
ENST00000409651.5:c.1650T>C	ENSP00000386683.1:p.Phe550=
ENST00000409744.5:c.1515T>C	ENSP00000386285.1:p.Phe505=
ENST00000409762.5:c.1605T>C	ENSP00000387137.1:p.Phe535=
ENST00000410020.7:c.1608T>C	ENSP00000386881.3:p.Phe536=
ENST00000410041.1:c.1608T>C	ENSP00000386617.1:p.Phe536=
ENST00000413539.6:c.1647T>C	ENSP00000407046.2:p.Phe549=
ENST00000429174.6:c.1554T>C	ENSP00000398305.2:p.Phe518=
NM_001130455.1:c.1557T>C	NP_001123927.1:p.Phe519=
NM_001130976.1:c.1512T>C	NP_001124448.1:p.Phe504=
NM_001130977.1:c.1512T>C	NP_001124449.1:p.Phe504=
NM_001130978.1:c.1554T>C	NP_001124450.1:p.Phe518=
NM_001130979.1:c.1647T>C	NP_001124451.1:p.Phe549=
NM_001130980.1:c.1605T>C	NP_001124452.1:p.Phe535=
NM_001130981.1:c.1605T>C	NP_001124453.1:p.Phe535=
NM_001130982.1:c.1650T>C	NP_001124454.1:p.Phe550=
NM_001130983.1:c.1557T>C	NP_001124455.1:p.Phe519=
NM_001130984.1:c.1515T>C	NP_001124456.1:p.Phe505=
NM_001130985.1:c.1608T>C	NP_001124457.1:p.Phe536=
NM_001130986.1:c.1515T>C	NP_001124458.1:p.Phe505=
NM_001130987.1:c.1608T>C	NP_001124459.1:p.Phe536=
NM_003494.3:c.1554T>C	NP_003485.1:p.Phe518=
XM_005264584.3:c.1650T>C	XP_005264641.1:p.Phe550=
XM_005264585.3:c.1647T>C	XP_005264642.1:p.Phe549=
XM_005264584.4:c.1650T>C	XP_005264641.1:p.Phe550=
XM_005264585.5:c.1647T>C	XP_005264642.1:p.Phe549=
XR_001738969.1:n.1808T>C
NM_001130987.2:c.1608T>C MANE Select	NP_001124459.1:p.Phe536=
NM_001130455.2:c.1557T>C	NP_001123927.1:p.Phe519=
NM_001130976.2:c.1512T>C	NP_001124448.1:p.Phe504=
NM_001130977.2:c.1512T>C	NP_001124449.1:p.Phe504=
NM_001130978.2:c.1554T>C	NP_001124450.1:p.Phe518=
NM_001130979.2:c.1647T>C	NP_001124451.1:p.Phe549=
NM_001130980.2:c.1605T>C	NP_001124452.1:p.Phe535=
NM_001130981.2:c.1605T>C	NP_001124453.1:p.Phe535=
NM_001130982.2:c.1650T>C	NP_001124454.1:p.Phe550=
NM_001130983.2:c.1557T>C	NP_001124455.1:p.Phe519=
NM_001130984.2:c.1515T>C	NP_001124456.1:p.Phe505=
NM_001130985.2:c.1608T>C	NP_001124457.1:p.Phe536=
NM_001130986.2:c.1515T>C	NP_001124458.1:p.Phe505=
NM_003494.4:c.1554T>C MANE Plus Clinical	NP_003485.1:p.Phe518=