Canonical Allele Identifier: CA347227921

Gene: DYSF

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3770G>T	ENSP00000513536.1:p.Ser1257Ile
ENST00000698058.1:c.2987G>T	ENSP00000513537.1:p.Ser996Ile
ENST00000698059.1:c.3095G>T	ENSP00000513538.1:p.Ser1032Ile
ENST00000258104.8:c.6239G>T MANE Plus Clinical	ENSP00000258104.3:p.Ser2080Ile
ENST00000410020.8:c.6356G>T MANE Select	ENSP00000386881.3:p.Ser2119Ile
ENST00000258104.7:c.6239G>T	ENSP00000258104.3:p.Ser2080Ile
ENST00000394120.6:c.6242G>T	ENSP00000377678.2:p.Ser2081Ile
ENST00000409366.5:c.6305G>T	ENSP00000386512.1:p.Ser2102Ile
ENST00000409582.7:c.6353G>T	ENSP00000386547.3:p.Ser2118Ile
ENST00000409651.5:c.6335G>T	ENSP00000386683.1:p.Ser2112Ile
ENST00000409744.5:c.6263G>T	ENSP00000386285.1:p.Ser2088Ile
ENST00000409762.5:c.6290G>T	ENSP00000387137.1:p.Ser2097Ile
ENST00000410020.7:c.6356G>T	ENSP00000386881.3:p.Ser2119Ile
ENST00000410041.1:c.6293G>T	ENSP00000386617.1:p.Ser2098Ile
ENST00000413539.6:c.6332G>T	ENSP00000407046.2:p.Ser2111Ile
ENST00000429174.6:c.6302G>T	ENSP00000398305.2:p.Ser2101Ile
ENST00000479049.6:n.3124G>T
NM_001130455.1:c.6242G>T	NP_001123927.1:p.Ser2081Ile
NM_001130976.1:c.6197G>T	NP_001124448.1:p.Ser2066Ile
NM_001130977.1:c.6260G>T	NP_001124449.1:p.Ser2087Ile
NM_001130978.1:c.6302G>T	NP_001124450.1:p.Ser2101Ile
NM_001130979.1:c.6332G>T	NP_001124451.1:p.Ser2111Ile
NM_001130980.1:c.6290G>T	NP_001124452.1:p.Ser2097Ile
NM_001130981.1:c.6353G>T	NP_001124453.1:p.Ser2118Ile
NM_001130982.1:c.6335G>T	NP_001124454.1:p.Ser2112Ile
NM_001130983.1:c.6305G>T	NP_001124455.1:p.Ser2102Ile
NM_001130984.1:c.6263G>T	NP_001124456.1:p.Ser2088Ile
NM_001130985.1:c.6293G>T	NP_001124457.1:p.Ser2098Ile
NM_001130986.1:c.6200G>T	NP_001124458.1:p.Ser2067Ile
NM_001130987.1:c.6356G>T	NP_001124459.1:p.Ser2119Ile
NM_003494.3:c.6239G>T	NP_003485.1:p.Ser2080Ile
XM_005264584.3:c.6398G>T	XP_005264641.1:p.Ser2133Ile
XM_005264585.3:c.6395G>T	XP_005264642.1:p.Ser2132Ile
XM_005264584.4:c.6398G>T	XP_005264641.1:p.Ser2133Ile
XM_005264585.5:c.6395G>T	XP_005264642.1:p.Ser2132Ile
NM_001130987.2:c.6356G>T MANE Select	NP_001124459.1:p.Ser2119Ile
NM_001130455.2:c.6242G>T	NP_001123927.1:p.Ser2081Ile
NM_001130976.2:c.6197G>T	NP_001124448.1:p.Ser2066Ile
NM_001130977.2:c.6260G>T	NP_001124449.1:p.Ser2087Ile
NM_001130978.2:c.6302G>T	NP_001124450.1:p.Ser2101Ile
NM_001130979.2:c.6332G>T	NP_001124451.1:p.Ser2111Ile
NM_001130980.2:c.6290G>T	NP_001124452.1:p.Ser2097Ile
NM_001130981.2:c.6353G>T	NP_001124453.1:p.Ser2118Ile
NM_001130982.2:c.6335G>T	NP_001124454.1:p.Ser2112Ile
NM_001130983.2:c.6305G>T	NP_001124455.1:p.Ser2102Ile
NM_001130984.2:c.6263G>T	NP_001124456.1:p.Ser2088Ile
NM_001130985.2:c.6293G>T	NP_001124457.1:p.Ser2098Ile
NM_001130986.2:c.6200G>T	NP_001124458.1:p.Ser2067Ile
NM_003494.4:c.6239G>T MANE Plus Clinical	NP_003485.1:p.Ser2080Ile