Canonical Allele Identifier: CA1706898

Gene: DYSF

Linked Data

• ClinVar Variation Id: 289774
• ClinVar RCV Id: RCV000266054 ; RCV002518100
• dbSNP Id: rs760627822
• ExAC: 2:71838661 G / A
• gnomAD v2: 2-71838661-G-A
• gnomAD v3: 2-71611531-G-A
• gnomAD v4: 2-71611531-G-A
• COSMIC: COSM1022681 ; COSM1592383
• MyVariant Identifiers: chr2:g.71838661G>A (hg19) ; chr2:g.71611531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611531G>A , CM000664.2:g.71611531G>A	GRCh38
NC_000002.11:g.71838661G>A , CM000664.1:g.71838661G>A	GRCh37
NC_000002.10:g.71692169G>A	NCBI36
NG_008694.1:g.162909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1540G>A	ENSP00000513536.1:p.Val514Met
ENST00000698058.1:c.757G>A	ENSP00000513537.1:p.Val253Met
ENST00000698059.1:c.715G>A	ENSP00000513538.1:p.Val239Met
ENST00000258104.8:c.4072G>A MANE Plus Clinical	ENSP00000258104.3:p.Val1358Met
ENST00000410020.8:c.4126G>A MANE Select	ENSP00000386881.3:p.Val1376Met
ENST00000258104.7:c.4072G>A	ENSP00000258104.3:p.Val1358Met
ENST00000394120.6:c.4075G>A	ENSP00000377678.2:p.Val1359Met
ENST00000409366.5:c.4075G>A	ENSP00000386512.1:p.Val1359Met
ENST00000409582.7:c.4123G>A	ENSP00000386547.3:p.Val1375Met
ENST00000409651.5:c.4168G>A	ENSP00000386683.1:p.Val1390Met
ENST00000409744.5:c.4033G>A	ENSP00000386285.1:p.Val1345Met
ENST00000409762.5:c.4123G>A	ENSP00000387137.1:p.Val1375Met
ENST00000410020.7:c.4126G>A	ENSP00000386881.3:p.Val1376Met
ENST00000410041.1:c.4126G>A	ENSP00000386617.1:p.Val1376Met
ENST00000413539.6:c.4165G>A	ENSP00000407046.2:p.Val1389Met
ENST00000429174.6:c.4072G>A	ENSP00000398305.2:p.Val1358Met
ENST00000468173.1:n.308G>A
ENST00000472873.5:n.456G>A
ENST00000479049.6:n.957G>A
ENST00000487180.5:n.291G>A
ENST00000494501.5:n.370G>A
NM_001130455.1:c.4075G>A	NP_001123927.1:p.Val1359Met
NM_001130976.1:c.4030G>A	NP_001124448.1:p.Val1344Met
NM_001130977.1:c.4030G>A	NP_001124449.1:p.Val1344Met
NM_001130978.1:c.4072G>A	NP_001124450.1:p.Val1358Met
NM_001130979.1:c.4165G>A	NP_001124451.1:p.Val1389Met
NM_001130980.1:c.4123G>A	NP_001124452.1:p.Val1375Met
NM_001130981.1:c.4123G>A	NP_001124453.1:p.Val1375Met
NM_001130982.1:c.4168G>A	NP_001124454.1:p.Val1390Met
NM_001130983.1:c.4075G>A	NP_001124455.1:p.Val1359Met
NM_001130984.1:c.4033G>A	NP_001124456.1:p.Val1345Met
NM_001130985.1:c.4126G>A	NP_001124457.1:p.Val1376Met
NM_001130986.1:c.4033G>A	NP_001124458.1:p.Val1345Met
NM_001130987.1:c.4126G>A	NP_001124459.1:p.Val1376Met
NM_003494.3:c.4072G>A	NP_003485.1:p.Val1358Met
XM_005264584.3:c.4168G>A	XP_005264641.1:p.Val1390Met
XM_005264585.3:c.4165G>A	XP_005264642.1:p.Val1389Met
XM_005264584.4:c.4168G>A	XP_005264641.1:p.Val1390Met
XM_005264585.5:c.4165G>A	XP_005264642.1:p.Val1389Met
XR_001738969.1:n.4326G>A
NM_001130987.2:c.4126G>A MANE Select	NP_001124459.1:p.Val1376Met
NM_001130455.2:c.4075G>A	NP_001123927.1:p.Val1359Met
NM_001130976.2:c.4030G>A	NP_001124448.1:p.Val1344Met
NM_001130977.2:c.4030G>A	NP_001124449.1:p.Val1344Met
NM_001130978.2:c.4072G>A	NP_001124450.1:p.Val1358Met
NM_001130979.2:c.4165G>A	NP_001124451.1:p.Val1389Met
NM_001130980.2:c.4123G>A	NP_001124452.1:p.Val1375Met
NM_001130981.2:c.4123G>A	NP_001124453.1:p.Val1375Met
NM_001130982.2:c.4168G>A	NP_001124454.1:p.Val1390Met
NM_001130983.2:c.4075G>A	NP_001124455.1:p.Val1359Met
NM_001130984.2:c.4033G>A	NP_001124456.1:p.Val1345Met
NM_001130985.2:c.4126G>A	NP_001124457.1:p.Val1376Met
NM_001130986.2:c.4033G>A	NP_001124458.1:p.Val1345Met
NM_003494.4:c.4072G>A MANE Plus Clinical	NP_003485.1:p.Val1358Met