Canonical Allele Identifier: CA347218306

Gene: DYSF

Linked Data

• ClinVar Variation Id: 447282
• ClinVar RCV Id: RCV000517890 ; RCV001382905 ; RCV001834663
• dbSNP Id: rs1553543506
• MyVariant Identifiers: chr2:g.71780146C>G (hg19) ; chr2:g.71553016C>G (hg38)
• PubMed: PMID:12796534 ; PMID:18853459 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71553016C>G , CM000664.2:g.71553016C>G	GRCh38
NC_000002.11:g.71780146C>G , CM000664.1:g.71780146C>G	GRCh37
NC_000002.10:g.71633654C>G	NCBI36
NG_008694.1:g.104394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1758C>G MANE Plus Clinical	ENSP00000258104.3:p.Tyr586Ter
ENST00000410020.8:c.1812C>G MANE Select	ENSP00000386881.3:p.Tyr604Ter
ENST00000258104.7:c.1758C>G	ENSP00000258104.3:p.Tyr586Ter
ENST00000394120.6:c.1761C>G	ENSP00000377678.2:p.Tyr587Ter
ENST00000409366.5:c.1761C>G	ENSP00000386512.1:p.Tyr587Ter
ENST00000409582.7:c.1809C>G	ENSP00000386547.3:p.Tyr603Ter
ENST00000409651.5:c.1854C>G	ENSP00000386683.1:p.Tyr618Ter
ENST00000409744.5:c.1719C>G	ENSP00000386285.1:p.Tyr573Ter
ENST00000409762.5:c.1809C>G	ENSP00000387137.1:p.Tyr603Ter
ENST00000410020.7:c.1812C>G	ENSP00000386881.3:p.Tyr604Ter
ENST00000410041.1:c.1812C>G	ENSP00000386617.1:p.Tyr604Ter
ENST00000413539.6:c.1851C>G	ENSP00000407046.2:p.Tyr617Ter
ENST00000429174.6:c.1758C>G	ENSP00000398305.2:p.Tyr586Ter
NM_001130455.1:c.1761C>G	NP_001123927.1:p.Tyr587Ter
NM_001130976.1:c.1716C>G	NP_001124448.1:p.Tyr572Ter
NM_001130977.1:c.1716C>G	NP_001124449.1:p.Tyr572Ter
NM_001130978.1:c.1758C>G	NP_001124450.1:p.Tyr586Ter
NM_001130979.1:c.1851C>G	NP_001124451.1:p.Tyr617Ter
NM_001130980.1:c.1809C>G	NP_001124452.1:p.Tyr603Ter
NM_001130981.1:c.1809C>G	NP_001124453.1:p.Tyr603Ter
NM_001130982.1:c.1854C>G	NP_001124454.1:p.Tyr618Ter
NM_001130983.1:c.1761C>G	NP_001124455.1:p.Tyr587Ter
NM_001130984.1:c.1719C>G	NP_001124456.1:p.Tyr573Ter
NM_001130985.1:c.1812C>G	NP_001124457.1:p.Tyr604Ter
NM_001130986.1:c.1719C>G	NP_001124458.1:p.Tyr573Ter
NM_001130987.1:c.1812C>G	NP_001124459.1:p.Tyr604Ter
NM_003494.3:c.1758C>G	NP_003485.1:p.Tyr586Ter
XM_005264584.3:c.1854C>G	XP_005264641.1:p.Tyr618Ter
XM_005264585.3:c.1851C>G	XP_005264642.1:p.Tyr617Ter
XM_005264584.4:c.1854C>G	XP_005264641.1:p.Tyr618Ter
XM_005264585.5:c.1851C>G	XP_005264642.1:p.Tyr617Ter
XR_001738969.1:n.2012C>G
NM_001130987.2:c.1812C>G MANE Select	NP_001124459.1:p.Tyr604Ter
NM_001130455.2:c.1761C>G	NP_001123927.1:p.Tyr587Ter
NM_001130976.2:c.1716C>G	NP_001124448.1:p.Tyr572Ter
NM_001130977.2:c.1716C>G	NP_001124449.1:p.Tyr572Ter
NM_001130978.2:c.1758C>G	NP_001124450.1:p.Tyr586Ter
NM_001130979.2:c.1851C>G	NP_001124451.1:p.Tyr617Ter
NM_001130980.2:c.1809C>G	NP_001124452.1:p.Tyr603Ter
NM_001130981.2:c.1809C>G	NP_001124453.1:p.Tyr603Ter
NM_001130982.2:c.1854C>G	NP_001124454.1:p.Tyr618Ter
NM_001130983.2:c.1761C>G	NP_001124455.1:p.Tyr587Ter
NM_001130984.2:c.1719C>G	NP_001124456.1:p.Tyr573Ter
NM_001130985.2:c.1812C>G	NP_001124457.1:p.Tyr604Ter
NM_001130986.2:c.1719C>G	NP_001124458.1:p.Tyr573Ter
NM_003494.4:c.1758C>G MANE Plus Clinical	NP_003485.1:p.Tyr586Ter