Canonical Allele Identifier: CA426702097

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1103345
• ClinVar RCV Id: RCV001426997
• dbSNP Id: rs2152815288
• gnomAD v4: 2-71570700-C-T
• MyVariant Identifiers: chr2:g.71797830C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570700C>T , CM000664.2:g.71570700C>T	GRCh38
NC_000002.11:g.71797830C>T , CM000664.1:g.71797830C>T	GRCh37
NC_000002.10:g.71651338C>T	NCBI36
NG_008694.1:g.122078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.559C>T	ENSP00000513536.1:p.Leu187=
ENST00000258104.8:c.3133C>T MANE Plus Clinical	ENSP00000258104.3:p.Leu1045=
ENST00000410020.8:c.3187C>T MANE Select	ENSP00000386881.3:p.Leu1063=
ENST00000258104.7:c.3133C>T	ENSP00000258104.3:p.Leu1045=
ENST00000394120.6:c.3136C>T	ENSP00000377678.2:p.Leu1046=
ENST00000409366.5:c.3136C>T	ENSP00000386512.1:p.Leu1046=
ENST00000409582.7:c.3184C>T	ENSP00000386547.3:p.Leu1062=
ENST00000409651.5:c.3229C>T	ENSP00000386683.1:p.Leu1077=
ENST00000409744.5:c.3094C>T	ENSP00000386285.1:p.Leu1032=
ENST00000409762.5:c.3184C>T	ENSP00000387137.1:p.Leu1062=
ENST00000410020.7:c.3187C>T	ENSP00000386881.3:p.Leu1063=
ENST00000410041.1:c.3187C>T	ENSP00000386617.1:p.Leu1063=
ENST00000413539.6:c.3226C>T	ENSP00000407046.2:p.Leu1076=
ENST00000429174.6:c.3133C>T	ENSP00000398305.2:p.Leu1045=
ENST00000461565.1:n.299C>T
NM_001130455.1:c.3136C>T	NP_001123927.1:p.Leu1046=
NM_001130976.1:c.3091C>T	NP_001124448.1:p.Leu1031=
NM_001130977.1:c.3091C>T	NP_001124449.1:p.Leu1031=
NM_001130978.1:c.3133C>T	NP_001124450.1:p.Leu1045=
NM_001130979.1:c.3226C>T	NP_001124451.1:p.Leu1076=
NM_001130980.1:c.3184C>T	NP_001124452.1:p.Leu1062=
NM_001130981.1:c.3184C>T	NP_001124453.1:p.Leu1062=
NM_001130982.1:c.3229C>T	NP_001124454.1:p.Leu1077=
NM_001130983.1:c.3136C>T	NP_001124455.1:p.Leu1046=
NM_001130984.1:c.3094C>T	NP_001124456.1:p.Leu1032=
NM_001130985.1:c.3187C>T	NP_001124457.1:p.Leu1063=
NM_001130986.1:c.3094C>T	NP_001124458.1:p.Leu1032=
NM_001130987.1:c.3187C>T	NP_001124459.1:p.Leu1063=
NM_003494.3:c.3133C>T	NP_003485.1:p.Leu1045=
XM_005264584.3:c.3229C>T	XP_005264641.1:p.Leu1077=
XM_005264585.3:c.3226C>T	XP_005264642.1:p.Leu1076=
XM_005264584.4:c.3229C>T	XP_005264641.1:p.Leu1077=
XM_005264585.5:c.3226C>T	XP_005264642.1:p.Leu1076=
XR_001738969.1:n.3387C>T
NM_001130987.2:c.3187C>T MANE Select	NP_001124459.1:p.Leu1063=
NM_001130455.2:c.3136C>T	NP_001123927.1:p.Leu1046=
NM_001130976.2:c.3091C>T	NP_001124448.1:p.Leu1031=
NM_001130977.2:c.3091C>T	NP_001124449.1:p.Leu1031=
NM_001130978.2:c.3133C>T	NP_001124450.1:p.Leu1045=
NM_001130979.2:c.3226C>T	NP_001124451.1:p.Leu1076=
NM_001130980.2:c.3184C>T	NP_001124452.1:p.Leu1062=
NM_001130981.2:c.3184C>T	NP_001124453.1:p.Leu1062=
NM_001130982.2:c.3229C>T	NP_001124454.1:p.Leu1077=
NM_001130983.2:c.3136C>T	NP_001124455.1:p.Leu1046=
NM_001130984.2:c.3094C>T	NP_001124456.1:p.Leu1032=
NM_001130985.2:c.3187C>T	NP_001124457.1:p.Leu1063=
NM_001130986.2:c.3094C>T	NP_001124458.1:p.Leu1032=
NM_003494.4:c.3133C>T MANE Plus Clinical	NP_003485.1:p.Leu1045=