Canonical Allele Identifier: CA347227862

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913591C>G (hg19) ; chr2:g.71686461C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686461C>G , CM000664.2:g.71686461C>G	GRCh38
NC_000002.11:g.71913591C>G , CM000664.1:g.71913591C>G	GRCh37
NC_000002.10:g.71767099C>G	NCBI36
NG_008694.1:g.237839C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3743C>G	ENSP00000513536.1:p.Ala1248Gly
ENST00000698058.1:c.2960C>G	ENSP00000513537.1:p.Ala987Gly
ENST00000698059.1:c.3068C>G	ENSP00000513538.1:p.Ala1023Gly
ENST00000258104.8:c.6212C>G MANE Plus Clinical	ENSP00000258104.3:p.Ala2071Gly
ENST00000410020.8:c.6329C>G MANE Select	ENSP00000386881.3:p.Ala2110Gly
ENST00000258104.7:c.6212C>G	ENSP00000258104.3:p.Ala2071Gly
ENST00000394120.6:c.6215C>G	ENSP00000377678.2:p.Ala2072Gly
ENST00000409366.5:c.6278C>G	ENSP00000386512.1:p.Ala2093Gly
ENST00000409582.7:c.6326C>G	ENSP00000386547.3:p.Ala2109Gly
ENST00000409651.5:c.6308C>G	ENSP00000386683.1:p.Ala2103Gly
ENST00000409744.5:c.6236C>G	ENSP00000386285.1:p.Ala2079Gly
ENST00000409762.5:c.6263C>G	ENSP00000387137.1:p.Ala2088Gly
ENST00000410020.7:c.6329C>G	ENSP00000386881.3:p.Ala2110Gly
ENST00000410041.1:c.6266C>G	ENSP00000386617.1:p.Ala2089Gly
ENST00000413539.6:c.6305C>G	ENSP00000407046.2:p.Ala2102Gly
ENST00000429174.6:c.6275C>G	ENSP00000398305.2:p.Ala2092Gly
ENST00000479049.6:n.3097C>G
NM_001130455.1:c.6215C>G	NP_001123927.1:p.Ala2072Gly
NM_001130976.1:c.6170C>G	NP_001124448.1:p.Ala2057Gly
NM_001130977.1:c.6233C>G	NP_001124449.1:p.Ala2078Gly
NM_001130978.1:c.6275C>G	NP_001124450.1:p.Ala2092Gly
NM_001130979.1:c.6305C>G	NP_001124451.1:p.Ala2102Gly
NM_001130980.1:c.6263C>G	NP_001124452.1:p.Ala2088Gly
NM_001130981.1:c.6326C>G	NP_001124453.1:p.Ala2109Gly
NM_001130982.1:c.6308C>G	NP_001124454.1:p.Ala2103Gly
NM_001130983.1:c.6278C>G	NP_001124455.1:p.Ala2093Gly
NM_001130984.1:c.6236C>G	NP_001124456.1:p.Ala2079Gly
NM_001130985.1:c.6266C>G	NP_001124457.1:p.Ala2089Gly
NM_001130986.1:c.6173C>G	NP_001124458.1:p.Ala2058Gly
NM_001130987.1:c.6329C>G	NP_001124459.1:p.Ala2110Gly
NM_003494.3:c.6212C>G	NP_003485.1:p.Ala2071Gly
XM_005264584.3:c.6371C>G	XP_005264641.1:p.Ala2124Gly
XM_005264585.3:c.6368C>G	XP_005264642.1:p.Ala2123Gly
XM_005264584.4:c.6371C>G	XP_005264641.1:p.Ala2124Gly
XM_005264585.5:c.6368C>G	XP_005264642.1:p.Ala2123Gly
NM_001130987.2:c.6329C>G MANE Select	NP_001124459.1:p.Ala2110Gly
NM_001130455.2:c.6215C>G	NP_001123927.1:p.Ala2072Gly
NM_001130976.2:c.6170C>G	NP_001124448.1:p.Ala2057Gly
NM_001130977.2:c.6233C>G	NP_001124449.1:p.Ala2078Gly
NM_001130978.2:c.6275C>G	NP_001124450.1:p.Ala2092Gly
NM_001130979.2:c.6305C>G	NP_001124451.1:p.Ala2102Gly
NM_001130980.2:c.6263C>G	NP_001124452.1:p.Ala2088Gly
NM_001130981.2:c.6326C>G	NP_001124453.1:p.Ala2109Gly
NM_001130982.2:c.6308C>G	NP_001124454.1:p.Ala2103Gly
NM_001130983.2:c.6278C>G	NP_001124455.1:p.Ala2093Gly
NM_001130984.2:c.6236C>G	NP_001124456.1:p.Ala2079Gly
NM_001130985.2:c.6266C>G	NP_001124457.1:p.Ala2089Gly
NM_001130986.2:c.6173C>G	NP_001124458.1:p.Ala2058Gly
NM_003494.4:c.6212C>G MANE Plus Clinical	NP_003485.1:p.Ala2071Gly