Canonical Allele Identifier: CA426705037

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1570567
• ClinVar RCV Id: RCV002215471
• dbSNP Id: rs2152976511
• gnomAD v4: 2-71686462-T-C
• MyVariant Identifiers: chr2:g.71913592T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686462T>C , CM000664.2:g.71686462T>C	GRCh38
NC_000002.11:g.71913592T>C , CM000664.1:g.71913592T>C	GRCh37
NC_000002.10:g.71767100T>C	NCBI36
NG_008694.1:g.237840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3744T>C	ENSP00000513536.1:p.Ala1248=
ENST00000698058.1:c.2961T>C	ENSP00000513537.1:p.Ala987=
ENST00000698059.1:c.3069T>C	ENSP00000513538.1:p.Ala1023=
ENST00000258104.8:c.6213T>C MANE Plus Clinical	ENSP00000258104.3:p.Ala2071=
ENST00000410020.8:c.6330T>C MANE Select	ENSP00000386881.3:p.Ala2110=
ENST00000258104.7:c.6213T>C	ENSP00000258104.3:p.Ala2071=
ENST00000394120.6:c.6216T>C	ENSP00000377678.2:p.Ala2072=
ENST00000409366.5:c.6279T>C	ENSP00000386512.1:p.Ala2093=
ENST00000409582.7:c.6327T>C	ENSP00000386547.3:p.Ala2109=
ENST00000409651.5:c.6309T>C	ENSP00000386683.1:p.Ala2103=
ENST00000409744.5:c.6237T>C	ENSP00000386285.1:p.Ala2079=
ENST00000409762.5:c.6264T>C	ENSP00000387137.1:p.Ala2088=
ENST00000410020.7:c.6330T>C	ENSP00000386881.3:p.Ala2110=
ENST00000410041.1:c.6267T>C	ENSP00000386617.1:p.Ala2089=
ENST00000413539.6:c.6306T>C	ENSP00000407046.2:p.Ala2102=
ENST00000429174.6:c.6276T>C	ENSP00000398305.2:p.Ala2092=
ENST00000479049.6:n.3098T>C
NM_001130455.1:c.6216T>C	NP_001123927.1:p.Ala2072=
NM_001130976.1:c.6171T>C	NP_001124448.1:p.Ala2057=
NM_001130977.1:c.6234T>C	NP_001124449.1:p.Ala2078=
NM_001130978.1:c.6276T>C	NP_001124450.1:p.Ala2092=
NM_001130979.1:c.6306T>C	NP_001124451.1:p.Ala2102=
NM_001130980.1:c.6264T>C	NP_001124452.1:p.Ala2088=
NM_001130981.1:c.6327T>C	NP_001124453.1:p.Ala2109=
NM_001130982.1:c.6309T>C	NP_001124454.1:p.Ala2103=
NM_001130983.1:c.6279T>C	NP_001124455.1:p.Ala2093=
NM_001130984.1:c.6237T>C	NP_001124456.1:p.Ala2079=
NM_001130985.1:c.6267T>C	NP_001124457.1:p.Ala2089=
NM_001130986.1:c.6174T>C	NP_001124458.1:p.Ala2058=
NM_001130987.1:c.6330T>C	NP_001124459.1:p.Ala2110=
NM_003494.3:c.6213T>C	NP_003485.1:p.Ala2071=
XM_005264584.3:c.6372T>C	XP_005264641.1:p.Ala2124=
XM_005264585.3:c.6369T>C	XP_005264642.1:p.Ala2123=
XM_005264584.4:c.6372T>C	XP_005264641.1:p.Ala2124=
XM_005264585.5:c.6369T>C	XP_005264642.1:p.Ala2123=
NM_001130987.2:c.6330T>C MANE Select	NP_001124459.1:p.Ala2110=
NM_001130455.2:c.6216T>C	NP_001123927.1:p.Ala2072=
NM_001130976.2:c.6171T>C	NP_001124448.1:p.Ala2057=
NM_001130977.2:c.6234T>C	NP_001124449.1:p.Ala2078=
NM_001130978.2:c.6276T>C	NP_001124450.1:p.Ala2092=
NM_001130979.2:c.6306T>C	NP_001124451.1:p.Ala2102=
NM_001130980.2:c.6264T>C	NP_001124452.1:p.Ala2088=
NM_001130981.2:c.6327T>C	NP_001124453.1:p.Ala2109=
NM_001130982.2:c.6309T>C	NP_001124454.1:p.Ala2103=
NM_001130983.2:c.6279T>C	NP_001124455.1:p.Ala2093=
NM_001130984.2:c.6237T>C	NP_001124456.1:p.Ala2079=
NM_001130985.2:c.6267T>C	NP_001124457.1:p.Ala2089=
NM_001130986.2:c.6174T>C	NP_001124458.1:p.Ala2058=
NM_003494.4:c.6213T>C MANE Plus Clinical	NP_003485.1:p.Ala2071=