Canonical Allele Identifier: CA233931

Gene: DYSF

Linked Data

• ClinVar Variation Id: 167021
• ClinVar RCV Id: RCV000153178 ; RCV000668306 ; RCV003462058 ; RCV003329115
• dbSNP Id: rs727503910
• MyVariant Identifiers: chr2:g.71795448G>C (hg19) ; chr2:g.71568318G>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71568318G>C , CM000664.2:g.71568318G>C	GRCh38
NC_000002.11:g.71795448G>C , CM000664.1:g.71795448G>C	GRCh37
NC_000002.10:g.71648956G>C	NCBI36
NG_008694.1:g.119696G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.216G>C	ENSP00000513536.1:p.Trp72Cys
ENST00000258104.8:c.2790G>C MANE Plus Clinical	ENSP00000258104.3:p.Trp930Cys
ENST00000410020.8:c.2844G>C MANE Select	ENSP00000386881.3:p.Trp948Cys
ENST00000258104.7:c.2790G>C	ENSP00000258104.3:p.Trp930Cys
ENST00000394120.6:c.2793G>C	ENSP00000377678.2:p.Trp931Cys
ENST00000409366.5:c.2793G>C	ENSP00000386512.1:p.Trp931Cys
ENST00000409582.7:c.2841G>C	ENSP00000386547.3:p.Trp947Cys
ENST00000409651.5:c.2886G>C	ENSP00000386683.1:p.Trp962Cys
ENST00000409744.5:c.2751G>C	ENSP00000386285.1:p.Trp917Cys
ENST00000409762.5:c.2841G>C	ENSP00000387137.1:p.Trp947Cys
ENST00000410020.7:c.2844G>C	ENSP00000386881.3:p.Trp948Cys
ENST00000410041.1:c.2844G>C	ENSP00000386617.1:p.Trp948Cys
ENST00000413539.6:c.2883G>C	ENSP00000407046.2:p.Trp961Cys
ENST00000429174.6:c.2790G>C	ENSP00000398305.2:p.Trp930Cys
NM_001130455.1:c.2793G>C	NP_001123927.1:p.Trp931Cys
NM_001130976.1:c.2748G>C	NP_001124448.1:p.Trp916Cys
NM_001130977.1:c.2748G>C	NP_001124449.1:p.Trp916Cys
NM_001130978.1:c.2790G>C	NP_001124450.1:p.Trp930Cys
NM_001130979.1:c.2883G>C	NP_001124451.1:p.Trp961Cys
NM_001130980.1:c.2841G>C	NP_001124452.1:p.Trp947Cys
NM_001130981.1:c.2841G>C	NP_001124453.1:p.Trp947Cys
NM_001130982.1:c.2886G>C	NP_001124454.1:p.Trp962Cys
NM_001130983.1:c.2793G>C	NP_001124455.1:p.Trp931Cys
NM_001130984.1:c.2751G>C	NP_001124456.1:p.Trp917Cys
NM_001130985.1:c.2844G>C	NP_001124457.1:p.Trp948Cys
NM_001130986.1:c.2751G>C	NP_001124458.1:p.Trp917Cys
NM_001130987.1:c.2844G>C	NP_001124459.1:p.Trp948Cys
NM_003494.3:c.2790G>C	NP_003485.1:p.Trp930Cys
XM_005264584.3:c.2886G>C	XP_005264641.1:p.Trp962Cys
XM_005264585.3:c.2883G>C	XP_005264642.1:p.Trp961Cys
XM_005264584.4:c.2886G>C	XP_005264641.1:p.Trp962Cys
XM_005264585.5:c.2883G>C	XP_005264642.1:p.Trp961Cys
XR_001738969.1:n.3044G>C
NM_001130987.2:c.2844G>C MANE Select	NP_001124459.1:p.Trp948Cys
NM_001130455.2:c.2793G>C	NP_001123927.1:p.Trp931Cys
NM_001130976.2:c.2748G>C	NP_001124448.1:p.Trp916Cys
NM_001130977.2:c.2748G>C	NP_001124449.1:p.Trp916Cys
NM_001130978.2:c.2790G>C	NP_001124450.1:p.Trp930Cys
NM_001130979.2:c.2883G>C	NP_001124451.1:p.Trp961Cys
NM_001130980.2:c.2841G>C	NP_001124452.1:p.Trp947Cys
NM_001130981.2:c.2841G>C	NP_001124453.1:p.Trp947Cys
NM_001130982.2:c.2886G>C	NP_001124454.1:p.Trp962Cys
NM_001130983.2:c.2793G>C	NP_001124455.1:p.Trp931Cys
NM_001130984.2:c.2751G>C	NP_001124456.1:p.Trp917Cys
NM_001130985.2:c.2844G>C	NP_001124457.1:p.Trp948Cys
NM_001130986.2:c.2751G>C	NP_001124458.1:p.Trp917Cys
NM_003494.4:c.2790G>C MANE Plus Clinical	NP_003485.1:p.Trp930Cys