Canonical Allele Identifier: CA1706726

Gene: DYSF

Linked Data

• ClinVar Variation Id: 259077
• ClinVar RCV Id: RCV000247034 ; RCV000300857 ; RCV000355657 ; RCV000725763 ; RCV001087720 ; RCV001272838
• dbSNP Id: rs139983909
• ExAC: 2:71827927 G / A
• gnomAD v2: 2-71827927-G-A
• gnomAD v3: 2-71600797-G-A
• gnomAD v4: 2-71600797-G-A
• MyVariant Identifiers: chr2:g.71827927G>A (hg19) ; chr2:g.71600797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71600797G>A , CM000664.2:g.71600797G>A	GRCh38
NC_000002.11:g.71827927G>A , CM000664.1:g.71827927G>A	GRCh37
NC_000002.10:g.71681435G>A	NCBI36
NG_008694.1:g.152175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1224G>A	ENSP00000513536.1:p.Pro408=
ENST00000698058.1:c.441G>A	ENSP00000513537.1:p.Pro147=
ENST00000698059.1:c.441G>A	ENSP00000513538.1:p.Pro147=
ENST00000258104.8:c.3798G>A MANE Plus Clinical	ENSP00000258104.3:p.Pro1266=
ENST00000410020.8:c.3852G>A MANE Select	ENSP00000386881.3:p.Pro1284=
ENST00000258104.7:c.3798G>A	ENSP00000258104.3:p.Pro1266=
ENST00000394120.6:c.3801G>A	ENSP00000377678.2:p.Pro1267=
ENST00000409366.5:c.3801G>A	ENSP00000386512.1:p.Pro1267=
ENST00000409582.7:c.3849G>A	ENSP00000386547.3:p.Pro1283=
ENST00000409651.5:c.3894G>A	ENSP00000386683.1:p.Pro1298=
ENST00000409744.5:c.3759G>A	ENSP00000386285.1:p.Pro1253=
ENST00000409762.5:c.3849G>A	ENSP00000387137.1:p.Pro1283=
ENST00000410020.7:c.3852G>A	ENSP00000386881.3:p.Pro1284=
ENST00000410041.1:c.3852G>A	ENSP00000386617.1:p.Pro1284=
ENST00000413539.6:c.3891G>A	ENSP00000407046.2:p.Pro1297=
ENST00000429174.6:c.3798G>A	ENSP00000398305.2:p.Pro1266=
ENST00000475076.5:n.626G>A
ENST00000479049.6:n.683G>A
ENST00000493767.1:n.519G>A
NM_001130455.1:c.3801G>A	NP_001123927.1:p.Pro1267=
NM_001130976.1:c.3756G>A	NP_001124448.1:p.Pro1252=
NM_001130977.1:c.3756G>A	NP_001124449.1:p.Pro1252=
NM_001130978.1:c.3798G>A	NP_001124450.1:p.Pro1266=
NM_001130979.1:c.3891G>A	NP_001124451.1:p.Pro1297=
NM_001130980.1:c.3849G>A	NP_001124452.1:p.Pro1283=
NM_001130981.1:c.3849G>A	NP_001124453.1:p.Pro1283=
NM_001130982.1:c.3894G>A	NP_001124454.1:p.Pro1298=
NM_001130983.1:c.3801G>A	NP_001124455.1:p.Pro1267=
NM_001130984.1:c.3759G>A	NP_001124456.1:p.Pro1253=
NM_001130985.1:c.3852G>A	NP_001124457.1:p.Pro1284=
NM_001130986.1:c.3759G>A	NP_001124458.1:p.Pro1253=
NM_001130987.1:c.3852G>A	NP_001124459.1:p.Pro1284=
NM_003494.3:c.3798G>A	NP_003485.1:p.Pro1266=
XM_005264584.3:c.3894G>A	XP_005264641.1:p.Pro1298=
XM_005264585.3:c.3891G>A	XP_005264642.1:p.Pro1297=
XM_005264584.4:c.3894G>A	XP_005264641.1:p.Pro1298=
XM_005264585.5:c.3891G>A	XP_005264642.1:p.Pro1297=
XR_001738969.1:n.4052G>A
NM_001130987.2:c.3852G>A MANE Select	NP_001124459.1:p.Pro1284=
NM_001130455.2:c.3801G>A	NP_001123927.1:p.Pro1267=
NM_001130976.2:c.3756G>A	NP_001124448.1:p.Pro1252=
NM_001130977.2:c.3756G>A	NP_001124449.1:p.Pro1252=
NM_001130978.2:c.3798G>A	NP_001124450.1:p.Pro1266=
NM_001130979.2:c.3891G>A	NP_001124451.1:p.Pro1297=
NM_001130980.2:c.3849G>A	NP_001124452.1:p.Pro1283=
NM_001130981.2:c.3849G>A	NP_001124453.1:p.Pro1283=
NM_001130982.2:c.3894G>A	NP_001124454.1:p.Pro1298=
NM_001130983.2:c.3801G>A	NP_001124455.1:p.Pro1267=
NM_001130984.2:c.3759G>A	NP_001124456.1:p.Pro1253=
NM_001130985.2:c.3852G>A	NP_001124457.1:p.Pro1284=
NM_001130986.2:c.3759G>A	NP_001124458.1:p.Pro1253=
NM_003494.4:c.3798G>A MANE Plus Clinical	NP_003485.1:p.Pro1266=