Canonical Allele Identifier: CA347227920

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913618G>C (hg19) ; chr2:g.71686488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686488G>C , CM000664.2:g.71686488G>C	GRCh38
NC_000002.11:g.71913618G>C , CM000664.1:g.71913618G>C	GRCh37
NC_000002.10:g.71767126G>C	NCBI36
NG_008694.1:g.237866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3770G>C	ENSP00000513536.1:p.Ser1257Thr
ENST00000698058.1:c.2987G>C	ENSP00000513537.1:p.Ser996Thr
ENST00000698059.1:c.3095G>C	ENSP00000513538.1:p.Ser1032Thr
ENST00000258104.8:c.6239G>C MANE Plus Clinical	ENSP00000258104.3:p.Ser2080Thr
ENST00000410020.8:c.6356G>C MANE Select	ENSP00000386881.3:p.Ser2119Thr
ENST00000258104.7:c.6239G>C	ENSP00000258104.3:p.Ser2080Thr
ENST00000394120.6:c.6242G>C	ENSP00000377678.2:p.Ser2081Thr
ENST00000409366.5:c.6305G>C	ENSP00000386512.1:p.Ser2102Thr
ENST00000409582.7:c.6353G>C	ENSP00000386547.3:p.Ser2118Thr
ENST00000409651.5:c.6335G>C	ENSP00000386683.1:p.Ser2112Thr
ENST00000409744.5:c.6263G>C	ENSP00000386285.1:p.Ser2088Thr
ENST00000409762.5:c.6290G>C	ENSP00000387137.1:p.Ser2097Thr
ENST00000410020.7:c.6356G>C	ENSP00000386881.3:p.Ser2119Thr
ENST00000410041.1:c.6293G>C	ENSP00000386617.1:p.Ser2098Thr
ENST00000413539.6:c.6332G>C	ENSP00000407046.2:p.Ser2111Thr
ENST00000429174.6:c.6302G>C	ENSP00000398305.2:p.Ser2101Thr
ENST00000479049.6:n.3124G>C
NM_001130455.1:c.6242G>C	NP_001123927.1:p.Ser2081Thr
NM_001130976.1:c.6197G>C	NP_001124448.1:p.Ser2066Thr
NM_001130977.1:c.6260G>C	NP_001124449.1:p.Ser2087Thr
NM_001130978.1:c.6302G>C	NP_001124450.1:p.Ser2101Thr
NM_001130979.1:c.6332G>C	NP_001124451.1:p.Ser2111Thr
NM_001130980.1:c.6290G>C	NP_001124452.1:p.Ser2097Thr
NM_001130981.1:c.6353G>C	NP_001124453.1:p.Ser2118Thr
NM_001130982.1:c.6335G>C	NP_001124454.1:p.Ser2112Thr
NM_001130983.1:c.6305G>C	NP_001124455.1:p.Ser2102Thr
NM_001130984.1:c.6263G>C	NP_001124456.1:p.Ser2088Thr
NM_001130985.1:c.6293G>C	NP_001124457.1:p.Ser2098Thr
NM_001130986.1:c.6200G>C	NP_001124458.1:p.Ser2067Thr
NM_001130987.1:c.6356G>C	NP_001124459.1:p.Ser2119Thr
NM_003494.3:c.6239G>C	NP_003485.1:p.Ser2080Thr
XM_005264584.3:c.6398G>C	XP_005264641.1:p.Ser2133Thr
XM_005264585.3:c.6395G>C	XP_005264642.1:p.Ser2132Thr
XM_005264584.4:c.6398G>C	XP_005264641.1:p.Ser2133Thr
XM_005264585.5:c.6395G>C	XP_005264642.1:p.Ser2132Thr
NM_001130987.2:c.6356G>C MANE Select	NP_001124459.1:p.Ser2119Thr
NM_001130455.2:c.6242G>C	NP_001123927.1:p.Ser2081Thr
NM_001130976.2:c.6197G>C	NP_001124448.1:p.Ser2066Thr
NM_001130977.2:c.6260G>C	NP_001124449.1:p.Ser2087Thr
NM_001130978.2:c.6302G>C	NP_001124450.1:p.Ser2101Thr
NM_001130979.2:c.6332G>C	NP_001124451.1:p.Ser2111Thr
NM_001130980.2:c.6290G>C	NP_001124452.1:p.Ser2097Thr
NM_001130981.2:c.6353G>C	NP_001124453.1:p.Ser2118Thr
NM_001130982.2:c.6335G>C	NP_001124454.1:p.Ser2112Thr
NM_001130983.2:c.6305G>C	NP_001124455.1:p.Ser2102Thr
NM_001130984.2:c.6263G>C	NP_001124456.1:p.Ser2088Thr
NM_001130985.2:c.6293G>C	NP_001124457.1:p.Ser2098Thr
NM_001130986.2:c.6200G>C	NP_001124458.1:p.Ser2067Thr
NM_003494.4:c.6239G>C MANE Plus Clinical	NP_003485.1:p.Ser2080Thr