Canonical Allele Identifier: CA426758886

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1651445
• ClinVar RCV Id: RCV002151809
• dbSNP Id: rs2152875258
• MyVariant Identifiers: chr2:g.71838648C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611518C>A , CM000664.2:g.71611518C>A	GRCh38
NC_000002.11:g.71838648C>A , CM000664.1:g.71838648C>A	GRCh37
NC_000002.10:g.71692156C>A	NCBI36
NG_008694.1:g.162896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1527C>A	ENSP00000513536.1:p.Ser509=
ENST00000698058.1:c.744C>A	ENSP00000513537.1:p.Ser248=
ENST00000698059.1:c.702C>A	ENSP00000513538.1:p.Ser234=
ENST00000258104.8:c.4059C>A MANE Plus Clinical	ENSP00000258104.3:p.Ser1353=
ENST00000410020.8:c.4113C>A MANE Select	ENSP00000386881.3:p.Ser1371=
ENST00000258104.7:c.4059C>A	ENSP00000258104.3:p.Ser1353=
ENST00000394120.6:c.4062C>A	ENSP00000377678.2:p.Ser1354=
ENST00000409366.5:c.4062C>A	ENSP00000386512.1:p.Ser1354=
ENST00000409582.7:c.4110C>A	ENSP00000386547.3:p.Ser1370=
ENST00000409651.5:c.4155C>A	ENSP00000386683.1:p.Ser1385=
ENST00000409744.5:c.4020C>A	ENSP00000386285.1:p.Ser1340=
ENST00000409762.5:c.4110C>A	ENSP00000387137.1:p.Ser1370=
ENST00000410020.7:c.4113C>A	ENSP00000386881.3:p.Ser1371=
ENST00000410041.1:c.4113C>A	ENSP00000386617.1:p.Ser1371=
ENST00000413539.6:c.4152C>A	ENSP00000407046.2:p.Ser1384=
ENST00000429174.6:c.4059C>A	ENSP00000398305.2:p.Ser1353=
ENST00000468173.1:n.295C>A
ENST00000472873.5:n.443C>A
ENST00000479049.6:n.944C>A
ENST00000487180.5:n.278C>A
ENST00000494501.5:n.366-9C>A
NM_001130455.1:c.4062C>A	NP_001123927.1:p.Ser1354=
NM_001130976.1:c.4017C>A	NP_001124448.1:p.Ser1339=
NM_001130977.1:c.4017C>A	NP_001124449.1:p.Ser1339=
NM_001130978.1:c.4059C>A	NP_001124450.1:p.Ser1353=
NM_001130979.1:c.4152C>A	NP_001124451.1:p.Ser1384=
NM_001130980.1:c.4110C>A	NP_001124452.1:p.Ser1370=
NM_001130981.1:c.4110C>A	NP_001124453.1:p.Ser1370=
NM_001130982.1:c.4155C>A	NP_001124454.1:p.Ser1385=
NM_001130983.1:c.4062C>A	NP_001124455.1:p.Ser1354=
NM_001130984.1:c.4020C>A	NP_001124456.1:p.Ser1340=
NM_001130985.1:c.4113C>A	NP_001124457.1:p.Ser1371=
NM_001130986.1:c.4020C>A	NP_001124458.1:p.Ser1340=
NM_001130987.1:c.4113C>A	NP_001124459.1:p.Ser1371=
NM_003494.3:c.4059C>A	NP_003485.1:p.Ser1353=
XM_005264584.3:c.4155C>A	XP_005264641.1:p.Ser1385=
XM_005264585.3:c.4152C>A	XP_005264642.1:p.Ser1384=
XM_005264584.4:c.4155C>A	XP_005264641.1:p.Ser1385=
XM_005264585.5:c.4152C>A	XP_005264642.1:p.Ser1384=
XR_001738969.1:n.4313C>A
NM_001130987.2:c.4113C>A MANE Select	NP_001124459.1:p.Ser1371=
NM_001130455.2:c.4062C>A	NP_001123927.1:p.Ser1354=
NM_001130976.2:c.4017C>A	NP_001124448.1:p.Ser1339=
NM_001130977.2:c.4017C>A	NP_001124449.1:p.Ser1339=
NM_001130978.2:c.4059C>A	NP_001124450.1:p.Ser1353=
NM_001130979.2:c.4152C>A	NP_001124451.1:p.Ser1384=
NM_001130980.2:c.4110C>A	NP_001124452.1:p.Ser1370=
NM_001130981.2:c.4110C>A	NP_001124453.1:p.Ser1370=
NM_001130982.2:c.4155C>A	NP_001124454.1:p.Ser1385=
NM_001130983.2:c.4062C>A	NP_001124455.1:p.Ser1354=
NM_001130984.2:c.4020C>A	NP_001124456.1:p.Ser1340=
NM_001130985.2:c.4113C>A	NP_001124457.1:p.Ser1371=
NM_001130986.2:c.4020C>A	NP_001124458.1:p.Ser1340=
NM_003494.4:c.4059C>A MANE Plus Clinical	NP_003485.1:p.Ser1353=