Canonical Allele Identifier: CA347227869

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1444196
• ClinVar RCV Id: RCV001981714
• dbSNP Id: rs2152976526
• gnomAD v4: 2-71686466-A-G
• MyVariant Identifiers: chr2:g.71913596A>G (hg19) ; chr2:g.71686466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686466A>G , CM000664.2:g.71686466A>G	GRCh38
NC_000002.11:g.71913596A>G , CM000664.1:g.71913596A>G	GRCh37
NC_000002.10:g.71767104A>G	NCBI36
NG_008694.1:g.237844A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3748A>G	ENSP00000513536.1:p.Met1250Val
ENST00000698058.1:c.2965A>G	ENSP00000513537.1:p.Met989Val
ENST00000698059.1:c.3073A>G	ENSP00000513538.1:p.Met1025Val
ENST00000258104.8:c.6217A>G MANE Plus Clinical	ENSP00000258104.3:p.Met2073Val
ENST00000410020.8:c.6334A>G MANE Select	ENSP00000386881.3:p.Met2112Val
ENST00000258104.7:c.6217A>G	ENSP00000258104.3:p.Met2073Val
ENST00000394120.6:c.6220A>G	ENSP00000377678.2:p.Met2074Val
ENST00000409366.5:c.6283A>G	ENSP00000386512.1:p.Met2095Val
ENST00000409582.7:c.6331A>G	ENSP00000386547.3:p.Met2111Val
ENST00000409651.5:c.6313A>G	ENSP00000386683.1:p.Met2105Val
ENST00000409744.5:c.6241A>G	ENSP00000386285.1:p.Met2081Val
ENST00000409762.5:c.6268A>G	ENSP00000387137.1:p.Met2090Val
ENST00000410020.7:c.6334A>G	ENSP00000386881.3:p.Met2112Val
ENST00000410041.1:c.6271A>G	ENSP00000386617.1:p.Met2091Val
ENST00000413539.6:c.6310A>G	ENSP00000407046.2:p.Met2104Val
ENST00000429174.6:c.6280A>G	ENSP00000398305.2:p.Met2094Val
ENST00000479049.6:n.3102A>G
NM_001130455.1:c.6220A>G	NP_001123927.1:p.Met2074Val
NM_001130976.1:c.6175A>G	NP_001124448.1:p.Met2059Val
NM_001130977.1:c.6238A>G	NP_001124449.1:p.Met2080Val
NM_001130978.1:c.6280A>G	NP_001124450.1:p.Met2094Val
NM_001130979.1:c.6310A>G	NP_001124451.1:p.Met2104Val
NM_001130980.1:c.6268A>G	NP_001124452.1:p.Met2090Val
NM_001130981.1:c.6331A>G	NP_001124453.1:p.Met2111Val
NM_001130982.1:c.6313A>G	NP_001124454.1:p.Met2105Val
NM_001130983.1:c.6283A>G	NP_001124455.1:p.Met2095Val
NM_001130984.1:c.6241A>G	NP_001124456.1:p.Met2081Val
NM_001130985.1:c.6271A>G	NP_001124457.1:p.Met2091Val
NM_001130986.1:c.6178A>G	NP_001124458.1:p.Met2060Val
NM_001130987.1:c.6334A>G	NP_001124459.1:p.Met2112Val
NM_003494.3:c.6217A>G	NP_003485.1:p.Met2073Val
XM_005264584.3:c.6376A>G	XP_005264641.1:p.Met2126Val
XM_005264585.3:c.6373A>G	XP_005264642.1:p.Met2125Val
XM_005264584.4:c.6376A>G	XP_005264641.1:p.Met2126Val
XM_005264585.5:c.6373A>G	XP_005264642.1:p.Met2125Val
NM_001130987.2:c.6334A>G MANE Select	NP_001124459.1:p.Met2112Val
NM_001130455.2:c.6220A>G	NP_001123927.1:p.Met2074Val
NM_001130976.2:c.6175A>G	NP_001124448.1:p.Met2059Val
NM_001130977.2:c.6238A>G	NP_001124449.1:p.Met2080Val
NM_001130978.2:c.6280A>G	NP_001124450.1:p.Met2094Val
NM_001130979.2:c.6310A>G	NP_001124451.1:p.Met2104Val
NM_001130980.2:c.6268A>G	NP_001124452.1:p.Met2090Val
NM_001130981.2:c.6331A>G	NP_001124453.1:p.Met2111Val
NM_001130982.2:c.6313A>G	NP_001124454.1:p.Met2105Val
NM_001130983.2:c.6283A>G	NP_001124455.1:p.Met2095Val
NM_001130984.2:c.6241A>G	NP_001124456.1:p.Met2081Val
NM_001130985.2:c.6271A>G	NP_001124457.1:p.Met2091Val
NM_001130986.2:c.6178A>G	NP_001124458.1:p.Met2060Val
NM_003494.4:c.6217A>G MANE Plus Clinical	NP_003485.1:p.Met2073Val