Canonical Allele Identifier: CA426704752

Gene: DYSF

Linked Data

• ClinVar Variation Id: 2919189
• ClinVar RCV Id: RCV003739287
• dbSNP Id: rs1326205092
• gnomAD v2: 2-71906338-A-G
• gnomAD v4: 2-71679208-A-G
• MyVariant Identifiers: chr2:g.71906338A>G (hg19) ; chr2:g.71679208A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679208A>G , CM000664.2:g.71679208A>G	GRCh38
NC_000002.11:g.71906338A>G , CM000664.1:g.71906338A>G	GRCh37
NC_000002.10:g.71759846A>G	NCBI36
NG_008694.1:g.230586A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3450A>G	ENSP00000513536.1:p.Ala1150=
ENST00000698058.1:c.2667A>G	ENSP00000513537.1:p.Ala889=
ENST00000698059.1:c.2775A>G	ENSP00000513538.1:p.Ala925=
ENST00000258104.8:c.5919A>G MANE Plus Clinical	ENSP00000258104.3:p.Ala1973=
ENST00000410020.8:c.6036A>G MANE Select	ENSP00000386881.3:p.Ala2012=
ENST00000258104.7:c.5919A>G	ENSP00000258104.3:p.Ala1973=
ENST00000394120.6:c.5922A>G	ENSP00000377678.2:p.Ala1974=
ENST00000409366.5:c.5985A>G	ENSP00000386512.1:p.Ala1995=
ENST00000409582.7:c.6033A>G	ENSP00000386547.3:p.Ala2011=
ENST00000409651.5:c.6015A>G	ENSP00000386683.1:p.Ala2005=
ENST00000409744.5:c.5943A>G	ENSP00000386285.1:p.Ala1981=
ENST00000409762.5:c.5970A>G	ENSP00000387137.1:p.Ala1990=
ENST00000410020.7:c.6036A>G	ENSP00000386881.3:p.Ala2012=
ENST00000410041.1:c.5973A>G	ENSP00000386617.1:p.Ala1991=
ENST00000413539.6:c.6012A>G	ENSP00000407046.2:p.Ala2004=
ENST00000429174.6:c.5982A>G	ENSP00000398305.2:p.Ala1994=
ENST00000479049.6:n.2804A>G
NM_001130455.1:c.5922A>G	NP_001123927.1:p.Ala1974=
NM_001130976.1:c.5877A>G	NP_001124448.1:p.Ala1959=
NM_001130977.1:c.5940A>G	NP_001124449.1:p.Ala1980=
NM_001130978.1:c.5982A>G	NP_001124450.1:p.Ala1994=
NM_001130979.1:c.6012A>G	NP_001124451.1:p.Ala2004=
NM_001130980.1:c.5970A>G	NP_001124452.1:p.Ala1990=
NM_001130981.1:c.6033A>G	NP_001124453.1:p.Ala2011=
NM_001130982.1:c.6015A>G	NP_001124454.1:p.Ala2005=
NM_001130983.1:c.5985A>G	NP_001124455.1:p.Ala1995=
NM_001130984.1:c.5943A>G	NP_001124456.1:p.Ala1981=
NM_001130985.1:c.5973A>G	NP_001124457.1:p.Ala1991=
NM_001130986.1:c.5880A>G	NP_001124458.1:p.Ala1960=
NM_001130987.1:c.6036A>G	NP_001124459.1:p.Ala2012=
NM_003494.3:c.5919A>G	NP_003485.1:p.Ala1973=
XM_005264584.3:c.6078A>G	XP_005264641.1:p.Ala2026=
XM_005264585.3:c.6075A>G	XP_005264642.1:p.Ala2025=
XM_005264584.4:c.6078A>G	XP_005264641.1:p.Ala2026=
XM_005264585.5:c.6075A>G	XP_005264642.1:p.Ala2025=
NM_001130987.2:c.6036A>G MANE Select	NP_001124459.1:p.Ala2012=
NM_001130455.2:c.5922A>G	NP_001123927.1:p.Ala1974=
NM_001130976.2:c.5877A>G	NP_001124448.1:p.Ala1959=
NM_001130977.2:c.5940A>G	NP_001124449.1:p.Ala1980=
NM_001130978.2:c.5982A>G	NP_001124450.1:p.Ala1994=
NM_001130979.2:c.6012A>G	NP_001124451.1:p.Ala2004=
NM_001130980.2:c.5970A>G	NP_001124452.1:p.Ala1990=
NM_001130981.2:c.6033A>G	NP_001124453.1:p.Ala2011=
NM_001130982.2:c.6015A>G	NP_001124454.1:p.Ala2005=
NM_001130983.2:c.5985A>G	NP_001124455.1:p.Ala1995=
NM_001130984.2:c.5943A>G	NP_001124456.1:p.Ala1981=
NM_001130985.2:c.5973A>G	NP_001124457.1:p.Ala1991=
NM_001130986.2:c.5880A>G	NP_001124458.1:p.Ala1960=
NM_003494.4:c.5919A>G MANE Plus Clinical	NP_003485.1:p.Ala1973=