Canonical Allele Identifier: CA1706901

Gene: DYSF

Linked Data

• dbSNP Id: rs759316169
• ExAC: 2:71838672 T / G
• gnomAD v2: 2-71838672-T-G
• gnomAD v4: 2-71611542-T-G
• MyVariant Identifiers: chr2:g.71838672T>G (hg19) ; chr2:g.71611542T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611542T>G , CM000664.2:g.71611542T>G	GRCh38
NC_000002.11:g.71838672T>G , CM000664.1:g.71838672T>G	GRCh37
NC_000002.10:g.71692180T>G	NCBI36
NG_008694.1:g.162920T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1551T>G	ENSP00000513536.1:p.Cys517Trp
ENST00000698058.1:c.768T>G	ENSP00000513537.1:p.Cys256Trp
ENST00000698059.1:c.726T>G	ENSP00000513538.1:p.Cys242Trp
ENST00000258104.8:c.4083T>G MANE Plus Clinical	ENSP00000258104.3:p.Cys1361Trp
ENST00000410020.8:c.4137T>G MANE Select	ENSP00000386881.3:p.Cys1379Trp
ENST00000258104.7:c.4083T>G	ENSP00000258104.3:p.Cys1361Trp
ENST00000394120.6:c.4086T>G	ENSP00000377678.2:p.Cys1362Trp
ENST00000409366.5:c.4086T>G	ENSP00000386512.1:p.Cys1362Trp
ENST00000409582.7:c.4134T>G	ENSP00000386547.3:p.Cys1378Trp
ENST00000409651.5:c.4179T>G	ENSP00000386683.1:p.Cys1393Trp
ENST00000409744.5:c.4044T>G	ENSP00000386285.1:p.Cys1348Trp
ENST00000409762.5:c.4134T>G	ENSP00000387137.1:p.Cys1378Trp
ENST00000410020.7:c.4137T>G	ENSP00000386881.3:p.Cys1379Trp
ENST00000410041.1:c.4137T>G	ENSP00000386617.1:p.Cys1379Trp
ENST00000413539.6:c.4176T>G	ENSP00000407046.2:p.Cys1392Trp
ENST00000429174.6:c.4083T>G	ENSP00000398305.2:p.Cys1361Trp
ENST00000468173.1:n.319T>G
ENST00000472873.5:n.467T>G
ENST00000479049.6:n.968T>G
ENST00000487180.5:n.302T>G
ENST00000494501.5:n.381T>G
NM_001130455.1:c.4086T>G	NP_001123927.1:p.Cys1362Trp
NM_001130976.1:c.4041T>G	NP_001124448.1:p.Cys1347Trp
NM_001130977.1:c.4041T>G	NP_001124449.1:p.Cys1347Trp
NM_001130978.1:c.4083T>G	NP_001124450.1:p.Cys1361Trp
NM_001130979.1:c.4176T>G	NP_001124451.1:p.Cys1392Trp
NM_001130980.1:c.4134T>G	NP_001124452.1:p.Cys1378Trp
NM_001130981.1:c.4134T>G	NP_001124453.1:p.Cys1378Trp
NM_001130982.1:c.4179T>G	NP_001124454.1:p.Cys1393Trp
NM_001130983.1:c.4086T>G	NP_001124455.1:p.Cys1362Trp
NM_001130984.1:c.4044T>G	NP_001124456.1:p.Cys1348Trp
NM_001130985.1:c.4137T>G	NP_001124457.1:p.Cys1379Trp
NM_001130986.1:c.4044T>G	NP_001124458.1:p.Cys1348Trp
NM_001130987.1:c.4137T>G	NP_001124459.1:p.Cys1379Trp
NM_003494.3:c.4083T>G	NP_003485.1:p.Cys1361Trp
XM_005264584.3:c.4179T>G	XP_005264641.1:p.Cys1393Trp
XM_005264585.3:c.4176T>G	XP_005264642.1:p.Cys1392Trp
XM_005264584.4:c.4179T>G	XP_005264641.1:p.Cys1393Trp
XM_005264585.5:c.4176T>G	XP_005264642.1:p.Cys1392Trp
XR_001738969.1:n.4337T>G
NM_001130987.2:c.4137T>G MANE Select	NP_001124459.1:p.Cys1379Trp
NM_001130455.2:c.4086T>G	NP_001123927.1:p.Cys1362Trp
NM_001130976.2:c.4041T>G	NP_001124448.1:p.Cys1347Trp
NM_001130977.2:c.4041T>G	NP_001124449.1:p.Cys1347Trp
NM_001130978.2:c.4083T>G	NP_001124450.1:p.Cys1361Trp
NM_001130979.2:c.4176T>G	NP_001124451.1:p.Cys1392Trp
NM_001130980.2:c.4134T>G	NP_001124452.1:p.Cys1378Trp
NM_001130981.2:c.4134T>G	NP_001124453.1:p.Cys1378Trp
NM_001130982.2:c.4179T>G	NP_001124454.1:p.Cys1393Trp
NM_001130983.2:c.4086T>G	NP_001124455.1:p.Cys1362Trp
NM_001130984.2:c.4044T>G	NP_001124456.1:p.Cys1348Trp
NM_001130985.2:c.4137T>G	NP_001124457.1:p.Cys1379Trp
NM_001130986.2:c.4044T>G	NP_001124458.1:p.Cys1348Trp
NM_003494.4:c.4083T>G MANE Plus Clinical	NP_003485.1:p.Cys1361Trp