Canonical Allele Identifier: CA10605167

Gene: DYSF

Linked Data

• ClinVar Variation Id: 285584
• ClinVar RCV Id: RCV000556431 ; RCV000597200 ; RCV002494847 ; RCV003463761
• dbSNP Id: rs886043145
• gnomAD v4: 2-71612772-C-G
• MyVariant Identifiers: chr2:g.71839902C>G (hg19) ; chr2:g.71612772C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71612772C>G , CM000664.2:g.71612772C>G	GRCh38
NC_000002.11:g.71839902C>G , CM000664.1:g.71839902C>G	GRCh37
NC_000002.10:g.71693410C>G	NCBI36
NG_008694.1:g.164150C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1767C>G	ENSP00000513536.1:p.Tyr589Ter
ENST00000698058.1:c.984C>G	ENSP00000513537.1:p.Tyr328Ter
ENST00000698059.1:c.942C>G	ENSP00000513538.1:p.Tyr314Ter
ENST00000258104.8:c.4299C>G MANE Plus Clinical	ENSP00000258104.3:p.Tyr1433Ter
ENST00000410020.8:c.4353C>G MANE Select	ENSP00000386881.3:p.Tyr1451Ter
ENST00000258104.7:c.4299C>G	ENSP00000258104.3:p.Tyr1433Ter
ENST00000394120.6:c.4302C>G	ENSP00000377678.2:p.Tyr1434Ter
ENST00000409366.5:c.4302C>G	ENSP00000386512.1:p.Tyr1434Ter
ENST00000409582.7:c.4350C>G	ENSP00000386547.3:p.Tyr1450Ter
ENST00000409651.5:c.4395C>G	ENSP00000386683.1:p.Tyr1465Ter
ENST00000409744.5:c.4260C>G	ENSP00000386285.1:p.Tyr1420Ter
ENST00000409762.5:c.4350C>G	ENSP00000387137.1:p.Tyr1450Ter
ENST00000410020.7:c.4353C>G	ENSP00000386881.3:p.Tyr1451Ter
ENST00000410041.1:c.4353C>G	ENSP00000386617.1:p.Tyr1451Ter
ENST00000413539.6:c.4392C>G	ENSP00000407046.2:p.Tyr1464Ter
ENST00000429174.6:c.4299C>G	ENSP00000398305.2:p.Tyr1433Ter
ENST00000468173.1:n.535C>G
ENST00000479049.6:n.1184C>G
ENST00000487180.5:n.518C>G
NM_001130455.1:c.4302C>G	NP_001123927.1:p.Tyr1434Ter
NM_001130976.1:c.4257C>G	NP_001124448.1:p.Tyr1419Ter
NM_001130977.1:c.4257C>G	NP_001124449.1:p.Tyr1419Ter
NM_001130978.1:c.4299C>G	NP_001124450.1:p.Tyr1433Ter
NM_001130979.1:c.4392C>G	NP_001124451.1:p.Tyr1464Ter
NM_001130980.1:c.4350C>G	NP_001124452.1:p.Tyr1450Ter
NM_001130981.1:c.4350C>G	NP_001124453.1:p.Tyr1450Ter
NM_001130982.1:c.4395C>G	NP_001124454.1:p.Tyr1465Ter
NM_001130983.1:c.4302C>G	NP_001124455.1:p.Tyr1434Ter
NM_001130984.1:c.4260C>G	NP_001124456.1:p.Tyr1420Ter
NM_001130985.1:c.4353C>G	NP_001124457.1:p.Tyr1451Ter
NM_001130986.1:c.4260C>G	NP_001124458.1:p.Tyr1420Ter
NM_001130987.1:c.4353C>G	NP_001124459.1:p.Tyr1451Ter
NM_003494.3:c.4299C>G	NP_003485.1:p.Tyr1433Ter
XM_005264584.3:c.4395C>G	XP_005264641.1:p.Tyr1465Ter
XM_005264585.3:c.4392C>G	XP_005264642.1:p.Tyr1464Ter
XM_005264584.4:c.4395C>G	XP_005264641.1:p.Tyr1465Ter
XM_005264585.5:c.4392C>G	XP_005264642.1:p.Tyr1464Ter
XR_001738969.1:n.4553C>G
NM_001130987.2:c.4353C>G MANE Select	NP_001124459.1:p.Tyr1451Ter
NM_001130455.2:c.4302C>G	NP_001123927.1:p.Tyr1434Ter
NM_001130976.2:c.4257C>G	NP_001124448.1:p.Tyr1419Ter
NM_001130977.2:c.4257C>G	NP_001124449.1:p.Tyr1419Ter
NM_001130978.2:c.4299C>G	NP_001124450.1:p.Tyr1433Ter
NM_001130979.2:c.4392C>G	NP_001124451.1:p.Tyr1464Ter
NM_001130980.2:c.4350C>G	NP_001124452.1:p.Tyr1450Ter
NM_001130981.2:c.4350C>G	NP_001124453.1:p.Tyr1450Ter
NM_001130982.2:c.4395C>G	NP_001124454.1:p.Tyr1465Ter
NM_001130983.2:c.4302C>G	NP_001124455.1:p.Tyr1434Ter
NM_001130984.2:c.4260C>G	NP_001124456.1:p.Tyr1420Ter
NM_001130985.2:c.4353C>G	NP_001124457.1:p.Tyr1451Ter
NM_001130986.2:c.4260C>G	NP_001124458.1:p.Tyr1420Ter
NM_003494.4:c.4299C>G MANE Plus Clinical	NP_003485.1:p.Tyr1433Ter