Canonical Allele Identifier: CA347228570

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1503167
• ClinVar RCV Id: RCV002045365
• dbSNP Id: rs1404000468
• gnomAD v2: 2-71838685-G-T
• gnomAD v3: 2-71611555-G-T
• gnomAD v4: 2-71611555-G-T
• MyVariant Identifiers: chr2:g.71838685G>T (hg19) ; chr2:g.71611555G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611555G>T , CM000664.2:g.71611555G>T	GRCh38
NC_000002.11:g.71838685G>T , CM000664.1:g.71838685G>T	GRCh37
NC_000002.10:g.71692193G>T	NCBI36
NG_008694.1:g.162933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1564G>T	ENSP00000513536.1:p.Val522Leu
ENST00000698058.1:c.781G>T	ENSP00000513537.1:p.Val261Leu
ENST00000698059.1:c.739G>T	ENSP00000513538.1:p.Val247Leu
ENST00000258104.8:c.4096G>T MANE Plus Clinical	ENSP00000258104.3:p.Val1366Leu
ENST00000410020.8:c.4150G>T MANE Select	ENSP00000386881.3:p.Val1384Leu
ENST00000258104.7:c.4096G>T	ENSP00000258104.3:p.Val1366Leu
ENST00000394120.6:c.4099G>T	ENSP00000377678.2:p.Val1367Leu
ENST00000409366.5:c.4099G>T	ENSP00000386512.1:p.Val1367Leu
ENST00000409582.7:c.4147G>T	ENSP00000386547.3:p.Val1383Leu
ENST00000409651.5:c.4192G>T	ENSP00000386683.1:p.Val1398Leu
ENST00000409744.5:c.4057G>T	ENSP00000386285.1:p.Val1353Leu
ENST00000409762.5:c.4147G>T	ENSP00000387137.1:p.Val1383Leu
ENST00000410020.7:c.4150G>T	ENSP00000386881.3:p.Val1384Leu
ENST00000410041.1:c.4150G>T	ENSP00000386617.1:p.Val1384Leu
ENST00000413539.6:c.4189G>T	ENSP00000407046.2:p.Val1397Leu
ENST00000429174.6:c.4096G>T	ENSP00000398305.2:p.Val1366Leu
ENST00000468173.1:n.332G>T
ENST00000472873.5:n.480G>T
ENST00000479049.6:n.981G>T
ENST00000487180.5:n.315G>T
ENST00000494501.5:n.394G>T
NM_001130455.1:c.4099G>T	NP_001123927.1:p.Val1367Leu
NM_001130976.1:c.4054G>T	NP_001124448.1:p.Val1352Leu
NM_001130977.1:c.4054G>T	NP_001124449.1:p.Val1352Leu
NM_001130978.1:c.4096G>T	NP_001124450.1:p.Val1366Leu
NM_001130979.1:c.4189G>T	NP_001124451.1:p.Val1397Leu
NM_001130980.1:c.4147G>T	NP_001124452.1:p.Val1383Leu
NM_001130981.1:c.4147G>T	NP_001124453.1:p.Val1383Leu
NM_001130982.1:c.4192G>T	NP_001124454.1:p.Val1398Leu
NM_001130983.1:c.4099G>T	NP_001124455.1:p.Val1367Leu
NM_001130984.1:c.4057G>T	NP_001124456.1:p.Val1353Leu
NM_001130985.1:c.4150G>T	NP_001124457.1:p.Val1384Leu
NM_001130986.1:c.4057G>T	NP_001124458.1:p.Val1353Leu
NM_001130987.1:c.4150G>T	NP_001124459.1:p.Val1384Leu
NM_003494.3:c.4096G>T	NP_003485.1:p.Val1366Leu
XM_005264584.3:c.4192G>T	XP_005264641.1:p.Val1398Leu
XM_005264585.3:c.4189G>T	XP_005264642.1:p.Val1397Leu
XM_005264584.4:c.4192G>T	XP_005264641.1:p.Val1398Leu
XM_005264585.5:c.4189G>T	XP_005264642.1:p.Val1397Leu
XR_001738969.1:n.4350G>T
NM_001130987.2:c.4150G>T MANE Select	NP_001124459.1:p.Val1384Leu
NM_001130455.2:c.4099G>T	NP_001123927.1:p.Val1367Leu
NM_001130976.2:c.4054G>T	NP_001124448.1:p.Val1352Leu
NM_001130977.2:c.4054G>T	NP_001124449.1:p.Val1352Leu
NM_001130978.2:c.4096G>T	NP_001124450.1:p.Val1366Leu
NM_001130979.2:c.4189G>T	NP_001124451.1:p.Val1397Leu
NM_001130980.2:c.4147G>T	NP_001124452.1:p.Val1383Leu
NM_001130981.2:c.4147G>T	NP_001124453.1:p.Val1383Leu
NM_001130982.2:c.4192G>T	NP_001124454.1:p.Val1398Leu
NM_001130983.2:c.4099G>T	NP_001124455.1:p.Val1367Leu
NM_001130984.2:c.4057G>T	NP_001124456.1:p.Val1353Leu
NM_001130985.2:c.4150G>T	NP_001124457.1:p.Val1384Leu
NM_001130986.2:c.4057G>T	NP_001124458.1:p.Val1353Leu
NM_003494.4:c.4096G>T MANE Plus Clinical	NP_003485.1:p.Val1366Leu