Canonical Allele Identifier: CA426705052

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1541545
• ClinVar RCV Id: RCV002179518
• dbSNP Id: rs1434927162
• MyVariant Identifiers: chr2:g.71913613C>T (hg19) ; chr2:g.71686483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686483C>T , CM000664.2:g.71686483C>T	GRCh38
NC_000002.11:g.71913613C>T , CM000664.1:g.71913613C>T	GRCh37
NC_000002.10:g.71767121C>T	NCBI36
NG_008694.1:g.237861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3765C>T	ENSP00000513536.1:p.Pro1255=
ENST00000698058.1:c.2982C>T	ENSP00000513537.1:p.Pro994=
ENST00000698059.1:c.3090C>T	ENSP00000513538.1:p.Pro1030=
ENST00000258104.8:c.6234C>T MANE Plus Clinical	ENSP00000258104.3:p.Pro2078=
ENST00000410020.8:c.6351C>T MANE Select	ENSP00000386881.3:p.Pro2117=
ENST00000258104.7:c.6234C>T	ENSP00000258104.3:p.Pro2078=
ENST00000394120.6:c.6237C>T	ENSP00000377678.2:p.Pro2079=
ENST00000409366.5:c.6300C>T	ENSP00000386512.1:p.Pro2100=
ENST00000409582.7:c.6348C>T	ENSP00000386547.3:p.Pro2116=
ENST00000409651.5:c.6330C>T	ENSP00000386683.1:p.Pro2110=
ENST00000409744.5:c.6258C>T	ENSP00000386285.1:p.Pro2086=
ENST00000409762.5:c.6285C>T	ENSP00000387137.1:p.Pro2095=
ENST00000410020.7:c.6351C>T	ENSP00000386881.3:p.Pro2117=
ENST00000410041.1:c.6288C>T	ENSP00000386617.1:p.Pro2096=
ENST00000413539.6:c.6327C>T	ENSP00000407046.2:p.Pro2109=
ENST00000429174.6:c.6297C>T	ENSP00000398305.2:p.Pro2099=
ENST00000479049.6:n.3119C>T
NM_001130455.1:c.6237C>T	NP_001123927.1:p.Pro2079=
NM_001130976.1:c.6192C>T	NP_001124448.1:p.Pro2064=
NM_001130977.1:c.6255C>T	NP_001124449.1:p.Pro2085=
NM_001130978.1:c.6297C>T	NP_001124450.1:p.Pro2099=
NM_001130979.1:c.6327C>T	NP_001124451.1:p.Pro2109=
NM_001130980.1:c.6285C>T	NP_001124452.1:p.Pro2095=
NM_001130981.1:c.6348C>T	NP_001124453.1:p.Pro2116=
NM_001130982.1:c.6330C>T	NP_001124454.1:p.Pro2110=
NM_001130983.1:c.6300C>T	NP_001124455.1:p.Pro2100=
NM_001130984.1:c.6258C>T	NP_001124456.1:p.Pro2086=
NM_001130985.1:c.6288C>T	NP_001124457.1:p.Pro2096=
NM_001130986.1:c.6195C>T	NP_001124458.1:p.Pro2065=
NM_001130987.1:c.6351C>T	NP_001124459.1:p.Pro2117=
NM_003494.3:c.6234C>T	NP_003485.1:p.Pro2078=
XM_005264584.3:c.6393C>T	XP_005264641.1:p.Pro2131=
XM_005264585.3:c.6390C>T	XP_005264642.1:p.Pro2130=
XM_005264584.4:c.6393C>T	XP_005264641.1:p.Pro2131=
XM_005264585.5:c.6390C>T	XP_005264642.1:p.Pro2130=
NM_001130987.2:c.6351C>T MANE Select	NP_001124459.1:p.Pro2117=
NM_001130455.2:c.6237C>T	NP_001123927.1:p.Pro2079=
NM_001130976.2:c.6192C>T	NP_001124448.1:p.Pro2064=
NM_001130977.2:c.6255C>T	NP_001124449.1:p.Pro2085=
NM_001130978.2:c.6297C>T	NP_001124450.1:p.Pro2099=
NM_001130979.2:c.6327C>T	NP_001124451.1:p.Pro2109=
NM_001130980.2:c.6285C>T	NP_001124452.1:p.Pro2095=
NM_001130981.2:c.6348C>T	NP_001124453.1:p.Pro2116=
NM_001130982.2:c.6330C>T	NP_001124454.1:p.Pro2110=
NM_001130983.2:c.6300C>T	NP_001124455.1:p.Pro2100=
NM_001130984.2:c.6258C>T	NP_001124456.1:p.Pro2086=
NM_001130985.2:c.6288C>T	NP_001124457.1:p.Pro2096=
NM_001130986.2:c.6195C>T	NP_001124458.1:p.Pro2065=
NM_003494.4:c.6234C>T MANE Plus Clinical	NP_003485.1:p.Pro2078=