Canonical Allele Identifier: CA347226641

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71829923G>C (hg19) ; chr2:g.71602793G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71602793G>C , CM000664.2:g.71602793G>C	GRCh38
NC_000002.11:g.71829923G>C , CM000664.1:g.71829923G>C	GRCh37
NC_000002.10:g.71683431G>C	NCBI36
NG_008694.1:g.154171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1317G>C	ENSP00000513536.1:p.Arg439Ser
ENST00000698058.1:c.534G>C	ENSP00000513537.1:p.Arg178Ser
ENST00000698059.1:c.534G>C	ENSP00000513538.1:p.Arg178Ser
ENST00000258104.8:c.3891G>C MANE Plus Clinical	ENSP00000258104.3:p.Arg1297Ser
ENST00000410020.8:c.3945G>C MANE Select	ENSP00000386881.3:p.Arg1315Ser
ENST00000258104.7:c.3891G>C	ENSP00000258104.3:p.Arg1297Ser
ENST00000394120.6:c.3894G>C	ENSP00000377678.2:p.Arg1298Ser
ENST00000409366.5:c.3894G>C	ENSP00000386512.1:p.Arg1298Ser
ENST00000409582.7:c.3942G>C	ENSP00000386547.3:p.Arg1314Ser
ENST00000409651.5:c.3987G>C	ENSP00000386683.1:p.Arg1329Ser
ENST00000409744.5:c.3852G>C	ENSP00000386285.1:p.Arg1284Ser
ENST00000409762.5:c.3942G>C	ENSP00000387137.1:p.Arg1314Ser
ENST00000410020.7:c.3945G>C	ENSP00000386881.3:p.Arg1315Ser
ENST00000410041.1:c.3945G>C	ENSP00000386617.1:p.Arg1315Ser
ENST00000413539.6:c.3984G>C	ENSP00000407046.2:p.Arg1328Ser
ENST00000429174.6:c.3891G>C	ENSP00000398305.2:p.Arg1297Ser
ENST00000472873.5:n.275G>C
ENST00000479049.6:n.776G>C
ENST00000487180.5:n.110G>C
ENST00000494501.5:n.251G>C
NM_001130455.1:c.3894G>C	NP_001123927.1:p.Arg1298Ser
NM_001130976.1:c.3849G>C	NP_001124448.1:p.Arg1283Ser
NM_001130977.1:c.3849G>C	NP_001124449.1:p.Arg1283Ser
NM_001130978.1:c.3891G>C	NP_001124450.1:p.Arg1297Ser
NM_001130979.1:c.3984G>C	NP_001124451.1:p.Arg1328Ser
NM_001130980.1:c.3942G>C	NP_001124452.1:p.Arg1314Ser
NM_001130981.1:c.3942G>C	NP_001124453.1:p.Arg1314Ser
NM_001130982.1:c.3987G>C	NP_001124454.1:p.Arg1329Ser
NM_001130983.1:c.3894G>C	NP_001124455.1:p.Arg1298Ser
NM_001130984.1:c.3852G>C	NP_001124456.1:p.Arg1284Ser
NM_001130985.1:c.3945G>C	NP_001124457.1:p.Arg1315Ser
NM_001130986.1:c.3852G>C	NP_001124458.1:p.Arg1284Ser
NM_001130987.1:c.3945G>C	NP_001124459.1:p.Arg1315Ser
NM_003494.3:c.3891G>C	NP_003485.1:p.Arg1297Ser
XM_005264584.3:c.3987G>C	XP_005264641.1:p.Arg1329Ser
XM_005264585.3:c.3984G>C	XP_005264642.1:p.Arg1328Ser
XM_005264584.4:c.3987G>C	XP_005264641.1:p.Arg1329Ser
XM_005264585.5:c.3984G>C	XP_005264642.1:p.Arg1328Ser
XR_001738969.1:n.4145G>C
NM_001130987.2:c.3945G>C MANE Select	NP_001124459.1:p.Arg1315Ser
NM_001130455.2:c.3894G>C	NP_001123927.1:p.Arg1298Ser
NM_001130976.2:c.3849G>C	NP_001124448.1:p.Arg1283Ser
NM_001130977.2:c.3849G>C	NP_001124449.1:p.Arg1283Ser
NM_001130978.2:c.3891G>C	NP_001124450.1:p.Arg1297Ser
NM_001130979.2:c.3984G>C	NP_001124451.1:p.Arg1328Ser
NM_001130980.2:c.3942G>C	NP_001124452.1:p.Arg1314Ser
NM_001130981.2:c.3942G>C	NP_001124453.1:p.Arg1314Ser
NM_001130982.2:c.3987G>C	NP_001124454.1:p.Arg1329Ser
NM_001130983.2:c.3894G>C	NP_001124455.1:p.Arg1298Ser
NM_001130984.2:c.3852G>C	NP_001124456.1:p.Arg1284Ser
NM_001130985.2:c.3945G>C	NP_001124457.1:p.Arg1315Ser
NM_001130986.2:c.3852G>C	NP_001124458.1:p.Arg1284Ser
NM_003494.4:c.3891G>C MANE Plus Clinical	NP_003485.1:p.Arg1297Ser