Canonical Allele Identifier: CA1706887

Gene: DYSF

Linked Data

• dbSNP Id: rs567608997
• ExAC: 2:71838604 T / C
• gnomAD v2: 2-71838604-T-C
• gnomAD v3: 2-71611474-T-C
• gnomAD v4: 2-71611474-T-C
• MyVariant Identifiers: chr2:g.71838604T>C (hg19) ; chr2:g.71611474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611474T>C , CM000664.2:g.71611474T>C	GRCh38
NC_000002.11:g.71838604T>C , CM000664.1:g.71838604T>C	GRCh37
NC_000002.10:g.71692112T>C	NCBI36
NG_008694.1:g.162852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1483T>C	ENSP00000513536.1:p.Trp495Arg
ENST00000698058.1:c.700T>C	ENSP00000513537.1:p.Trp234Arg
ENST00000698059.1:c.658T>C	ENSP00000513538.1:p.Trp220Arg
ENST00000258104.8:c.4015T>C MANE Plus Clinical	ENSP00000258104.3:p.Trp1339Arg
ENST00000410020.8:c.4069T>C MANE Select	ENSP00000386881.3:p.Trp1357Arg
ENST00000258104.7:c.4015T>C	ENSP00000258104.3:p.Trp1339Arg
ENST00000394120.6:c.4018T>C	ENSP00000377678.2:p.Trp1340Arg
ENST00000409366.5:c.4018T>C	ENSP00000386512.1:p.Trp1340Arg
ENST00000409582.7:c.4066T>C	ENSP00000386547.3:p.Trp1356Arg
ENST00000409651.5:c.4111T>C	ENSP00000386683.1:p.Trp1371Arg
ENST00000409744.5:c.3976T>C	ENSP00000386285.1:p.Trp1326Arg
ENST00000409762.5:c.4066T>C	ENSP00000387137.1:p.Trp1356Arg
ENST00000410020.7:c.4069T>C	ENSP00000386881.3:p.Trp1357Arg
ENST00000410041.1:c.4069T>C	ENSP00000386617.1:p.Trp1357Arg
ENST00000413539.6:c.4108T>C	ENSP00000407046.2:p.Trp1370Arg
ENST00000429174.6:c.4015T>C	ENSP00000398305.2:p.Trp1339Arg
ENST00000468173.1:n.251T>C
ENST00000472873.5:n.399T>C
ENST00000479049.6:n.900T>C
ENST00000487180.5:n.234T>C
ENST00000494501.5:n.366-53T>C
NM_001130455.1:c.4018T>C	NP_001123927.1:p.Trp1340Arg
NM_001130976.1:c.3973T>C	NP_001124448.1:p.Trp1325Arg
NM_001130977.1:c.3973T>C	NP_001124449.1:p.Trp1325Arg
NM_001130978.1:c.4015T>C	NP_001124450.1:p.Trp1339Arg
NM_001130979.1:c.4108T>C	NP_001124451.1:p.Trp1370Arg
NM_001130980.1:c.4066T>C	NP_001124452.1:p.Trp1356Arg
NM_001130981.1:c.4066T>C	NP_001124453.1:p.Trp1356Arg
NM_001130982.1:c.4111T>C	NP_001124454.1:p.Trp1371Arg
NM_001130983.1:c.4018T>C	NP_001124455.1:p.Trp1340Arg
NM_001130984.1:c.3976T>C	NP_001124456.1:p.Trp1326Arg
NM_001130985.1:c.4069T>C	NP_001124457.1:p.Trp1357Arg
NM_001130986.1:c.3976T>C	NP_001124458.1:p.Trp1326Arg
NM_001130987.1:c.4069T>C	NP_001124459.1:p.Trp1357Arg
NM_003494.3:c.4015T>C	NP_003485.1:p.Trp1339Arg
XM_005264584.3:c.4111T>C	XP_005264641.1:p.Trp1371Arg
XM_005264585.3:c.4108T>C	XP_005264642.1:p.Trp1370Arg
XM_005264584.4:c.4111T>C	XP_005264641.1:p.Trp1371Arg
XM_005264585.5:c.4108T>C	XP_005264642.1:p.Trp1370Arg
XR_001738969.1:n.4269T>C
NM_001130987.2:c.4069T>C MANE Select	NP_001124459.1:p.Trp1357Arg
NM_001130455.2:c.4018T>C	NP_001123927.1:p.Trp1340Arg
NM_001130976.2:c.3973T>C	NP_001124448.1:p.Trp1325Arg
NM_001130977.2:c.3973T>C	NP_001124449.1:p.Trp1325Arg
NM_001130978.2:c.4015T>C	NP_001124450.1:p.Trp1339Arg
NM_001130979.2:c.4108T>C	NP_001124451.1:p.Trp1370Arg
NM_001130980.2:c.4066T>C	NP_001124452.1:p.Trp1356Arg
NM_001130981.2:c.4066T>C	NP_001124453.1:p.Trp1356Arg
NM_001130982.2:c.4111T>C	NP_001124454.1:p.Trp1371Arg
NM_001130983.2:c.4018T>C	NP_001124455.1:p.Trp1340Arg
NM_001130984.2:c.3976T>C	NP_001124456.1:p.Trp1326Arg
NM_001130985.2:c.4069T>C	NP_001124457.1:p.Trp1357Arg
NM_001130986.2:c.3976T>C	NP_001124458.1:p.Trp1326Arg
NM_003494.4:c.4015T>C MANE Plus Clinical	NP_003485.1:p.Trp1339Arg