Canonical Allele Identifier: CA347228576

Gene: DYSF

Linked Data

• ClinVar Variation Id: 647109
• ClinVar RCV Id: RCV000801537 ; RCV003461132
• dbSNP Id: rs1574340403
• MyVariant Identifiers: chr2:g.71838688C>T (hg19) ; chr2:g.71611558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611558C>T , CM000664.2:g.71611558C>T	GRCh38
NC_000002.11:g.71838688C>T , CM000664.1:g.71838688C>T	GRCh37
NC_000002.10:g.71692196C>T	NCBI36
NG_008694.1:g.162936C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1567C>T	ENSP00000513536.1:p.Gln523Ter
ENST00000698058.1:c.784C>T	ENSP00000513537.1:p.Gln262Ter
ENST00000698059.1:c.742C>T	ENSP00000513538.1:p.Gln248Ter
ENST00000258104.8:c.4099C>T MANE Plus Clinical	ENSP00000258104.3:p.Gln1367Ter
ENST00000410020.8:c.4153C>T MANE Select	ENSP00000386881.3:p.Gln1385Ter
ENST00000258104.7:c.4099C>T	ENSP00000258104.3:p.Gln1367Ter
ENST00000394120.6:c.4102C>T	ENSP00000377678.2:p.Gln1368Ter
ENST00000409366.5:c.4102C>T	ENSP00000386512.1:p.Gln1368Ter
ENST00000409582.7:c.4150C>T	ENSP00000386547.3:p.Gln1384Ter
ENST00000409651.5:c.4195C>T	ENSP00000386683.1:p.Gln1399Ter
ENST00000409744.5:c.4060C>T	ENSP00000386285.1:p.Gln1354Ter
ENST00000409762.5:c.4150C>T	ENSP00000387137.1:p.Gln1384Ter
ENST00000410020.7:c.4153C>T	ENSP00000386881.3:p.Gln1385Ter
ENST00000410041.1:c.4153C>T	ENSP00000386617.1:p.Gln1385Ter
ENST00000413539.6:c.4192C>T	ENSP00000407046.2:p.Gln1398Ter
ENST00000429174.6:c.4099C>T	ENSP00000398305.2:p.Gln1367Ter
ENST00000468173.1:n.335C>T
ENST00000472873.5:n.483C>T
ENST00000479049.6:n.984C>T
ENST00000487180.5:n.318C>T
ENST00000494501.5:n.397C>T
NM_001130455.1:c.4102C>T	NP_001123927.1:p.Gln1368Ter
NM_001130976.1:c.4057C>T	NP_001124448.1:p.Gln1353Ter
NM_001130977.1:c.4057C>T	NP_001124449.1:p.Gln1353Ter
NM_001130978.1:c.4099C>T	NP_001124450.1:p.Gln1367Ter
NM_001130979.1:c.4192C>T	NP_001124451.1:p.Gln1398Ter
NM_001130980.1:c.4150C>T	NP_001124452.1:p.Gln1384Ter
NM_001130981.1:c.4150C>T	NP_001124453.1:p.Gln1384Ter
NM_001130982.1:c.4195C>T	NP_001124454.1:p.Gln1399Ter
NM_001130983.1:c.4102C>T	NP_001124455.1:p.Gln1368Ter
NM_001130984.1:c.4060C>T	NP_001124456.1:p.Gln1354Ter
NM_001130985.1:c.4153C>T	NP_001124457.1:p.Gln1385Ter
NM_001130986.1:c.4060C>T	NP_001124458.1:p.Gln1354Ter
NM_001130987.1:c.4153C>T	NP_001124459.1:p.Gln1385Ter
NM_003494.3:c.4099C>T	NP_003485.1:p.Gln1367Ter
XM_005264584.3:c.4195C>T	XP_005264641.1:p.Gln1399Ter
XM_005264585.3:c.4192C>T	XP_005264642.1:p.Gln1398Ter
XM_005264584.4:c.4195C>T	XP_005264641.1:p.Gln1399Ter
XM_005264585.5:c.4192C>T	XP_005264642.1:p.Gln1398Ter
XR_001738969.1:n.4353C>T
NM_001130987.2:c.4153C>T MANE Select	NP_001124459.1:p.Gln1385Ter
NM_001130455.2:c.4102C>T	NP_001123927.1:p.Gln1368Ter
NM_001130976.2:c.4057C>T	NP_001124448.1:p.Gln1353Ter
NM_001130977.2:c.4057C>T	NP_001124449.1:p.Gln1353Ter
NM_001130978.2:c.4099C>T	NP_001124450.1:p.Gln1367Ter
NM_001130979.2:c.4192C>T	NP_001124451.1:p.Gln1398Ter
NM_001130980.2:c.4150C>T	NP_001124452.1:p.Gln1384Ter
NM_001130981.2:c.4150C>T	NP_001124453.1:p.Gln1384Ter
NM_001130982.2:c.4195C>T	NP_001124454.1:p.Gln1399Ter
NM_001130983.2:c.4102C>T	NP_001124455.1:p.Gln1368Ter
NM_001130984.2:c.4060C>T	NP_001124456.1:p.Gln1354Ter
NM_001130985.2:c.4153C>T	NP_001124457.1:p.Gln1385Ter
NM_001130986.2:c.4060C>T	NP_001124458.1:p.Gln1354Ter
NM_003494.4:c.4099C>T MANE Plus Clinical	NP_003485.1:p.Gln1367Ter