Canonical Allele Identifier: CA49779945

Gene: DYSF

Linked Data

• dbSNP Id: rs933075564
• gnomAD v4: 2-71686736-A-G
• MyVariant Identifiers: chr2:g.71913866A>G (hg19) ; chr2:g.71686736A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686736A>G , CM000664.2:g.71686736A>G	GRCh38
NC_000002.11:g.71913866A>G , CM000664.1:g.71913866A>G	GRCh37
NC_000002.10:g.71767374A>G	NCBI36
NG_008694.1:g.238114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.4018A>G	ENSP00000513536.1:n.4018A>G
ENST00000698058.1:c.*244A>G	ENSP00000513537.1:n.*244A>G
ENST00000698059.1:c.*244A>G	ENSP00000513538.1:n.*244A>G
ENST00000258104.8:c.*244A>G MANE Plus Clinical	ENSP00000258104.3:n.*244A>G
ENST00000410020.8:c.*244A>G MANE Select	ENSP00000386881.3:n.*244A>G
ENST00000258104.7:c.*244A>G	ENSP00000258104.3:n.*244A>G
ENST00000479049.6:n.3372A>G
NM_001130455.1:c.*244A>G	NP_001123927.1:n.*244A>G
NM_001130976.1:c.*244A>G	NP_001124448.1:n.*244A>G
NM_001130977.1:c.*244A>G	NP_001124449.1:n.*244A>G
NM_001130978.1:c.*244A>G	NP_001124450.1:n.*244A>G
NM_001130979.1:c.*244A>G	NP_001124451.1:n.*244A>G
NM_001130980.1:c.*244A>G	NP_001124452.1:n.*244A>G
NM_001130981.1:c.*244A>G	NP_001124453.1:n.*244A>G
NM_001130982.1:c.*244A>G	NP_001124454.1:n.*244A>G
NM_001130983.1:c.*244A>G	NP_001124455.1:n.*244A>G
NM_001130984.1:c.*244A>G	NP_001124456.1:n.*244A>G
NM_001130985.1:c.*244A>G	NP_001124457.1:n.*244A>G
NM_001130986.1:c.*244A>G	NP_001124458.1:n.*244A>G
NM_001130987.1:c.*244A>G	NP_001124459.1:n.*244A>G
NM_003494.3:c.*244A>G	NP_003485.1:n.*244A>G
XM_005264584.3:c.*244A>G	XP_005264641.1:n.*244A>G
XM_005264585.3:c.*244A>G	XP_005264642.1:n.*244A>G
XM_005264584.4:c.*244A>G	XP_005264641.1:n.*244A>G
XM_005264585.5:c.*244A>G	XP_005264642.1:n.*244A>G
NM_001130987.2:c.*244A>G MANE Select	NP_001124459.1:n.*244A>G
NM_001130455.2:c.*244A>G	NP_001123927.1:n.*244A>G
NM_001130976.2:c.*244A>G	NP_001124448.1:n.*244A>G
NM_001130977.2:c.*244A>G	NP_001124449.1:n.*244A>G
NM_001130978.2:c.*244A>G	NP_001124450.1:n.*244A>G
NM_001130979.2:c.*244A>G	NP_001124451.1:n.*244A>G
NM_001130980.2:c.*244A>G	NP_001124452.1:n.*244A>G
NM_001130981.2:c.*244A>G	NP_001124453.1:n.*244A>G
NM_001130982.2:c.*244A>G	NP_001124454.1:n.*244A>G
NM_001130983.2:c.*244A>G	NP_001124455.1:n.*244A>G
NM_001130984.2:c.*244A>G	NP_001124456.1:n.*244A>G
NM_001130985.2:c.*244A>G	NP_001124457.1:n.*244A>G
NM_001130986.2:c.*244A>G	NP_001124458.1:n.*244A>G
NM_003494.4:c.*244A>G MANE Plus Clinical	NP_003485.1:n.*244A>G