Canonical Allele Identifier: CA347228546

Gene: DYSF

Linked Data

• dbSNP Id: rs1478287406
• gnomAD v2: 2-71838673-G-C
• MyVariant Identifiers: chr2:g.71838673G>C (hg19) ; chr2:g.71611543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611543G>C , CM000664.2:g.71611543G>C	GRCh38
NC_000002.11:g.71838673G>C , CM000664.1:g.71838673G>C	GRCh37
NC_000002.10:g.71692181G>C	NCBI36
NG_008694.1:g.162921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1552G>C	ENSP00000513536.1:p.Gly518Arg
ENST00000698058.1:c.769G>C	ENSP00000513537.1:p.Gly257Arg
ENST00000698059.1:c.727G>C	ENSP00000513538.1:p.Gly243Arg
ENST00000258104.8:c.4084G>C MANE Plus Clinical	ENSP00000258104.3:p.Gly1362Arg
ENST00000410020.8:c.4138G>C MANE Select	ENSP00000386881.3:p.Gly1380Arg
ENST00000258104.7:c.4084G>C	ENSP00000258104.3:p.Gly1362Arg
ENST00000394120.6:c.4087G>C	ENSP00000377678.2:p.Gly1363Arg
ENST00000409366.5:c.4087G>C	ENSP00000386512.1:p.Gly1363Arg
ENST00000409582.7:c.4135G>C	ENSP00000386547.3:p.Gly1379Arg
ENST00000409651.5:c.4180G>C	ENSP00000386683.1:p.Gly1394Arg
ENST00000409744.5:c.4045G>C	ENSP00000386285.1:p.Gly1349Arg
ENST00000409762.5:c.4135G>C	ENSP00000387137.1:p.Gly1379Arg
ENST00000410020.7:c.4138G>C	ENSP00000386881.3:p.Gly1380Arg
ENST00000410041.1:c.4138G>C	ENSP00000386617.1:p.Gly1380Arg
ENST00000413539.6:c.4177G>C	ENSP00000407046.2:p.Gly1393Arg
ENST00000429174.6:c.4084G>C	ENSP00000398305.2:p.Gly1362Arg
ENST00000468173.1:n.320G>C
ENST00000472873.5:n.468G>C
ENST00000479049.6:n.969G>C
ENST00000487180.5:n.303G>C
ENST00000494501.5:n.382G>C
NM_001130455.1:c.4087G>C	NP_001123927.1:p.Gly1363Arg
NM_001130976.1:c.4042G>C	NP_001124448.1:p.Gly1348Arg
NM_001130977.1:c.4042G>C	NP_001124449.1:p.Gly1348Arg
NM_001130978.1:c.4084G>C	NP_001124450.1:p.Gly1362Arg
NM_001130979.1:c.4177G>C	NP_001124451.1:p.Gly1393Arg
NM_001130980.1:c.4135G>C	NP_001124452.1:p.Gly1379Arg
NM_001130981.1:c.4135G>C	NP_001124453.1:p.Gly1379Arg
NM_001130982.1:c.4180G>C	NP_001124454.1:p.Gly1394Arg
NM_001130983.1:c.4087G>C	NP_001124455.1:p.Gly1363Arg
NM_001130984.1:c.4045G>C	NP_001124456.1:p.Gly1349Arg
NM_001130985.1:c.4138G>C	NP_001124457.1:p.Gly1380Arg
NM_001130986.1:c.4045G>C	NP_001124458.1:p.Gly1349Arg
NM_001130987.1:c.4138G>C	NP_001124459.1:p.Gly1380Arg
NM_003494.3:c.4084G>C	NP_003485.1:p.Gly1362Arg
XM_005264584.3:c.4180G>C	XP_005264641.1:p.Gly1394Arg
XM_005264585.3:c.4177G>C	XP_005264642.1:p.Gly1393Arg
XM_005264584.4:c.4180G>C	XP_005264641.1:p.Gly1394Arg
XM_005264585.5:c.4177G>C	XP_005264642.1:p.Gly1393Arg
XR_001738969.1:n.4338G>C
NM_001130987.2:c.4138G>C MANE Select	NP_001124459.1:p.Gly1380Arg
NM_001130455.2:c.4087G>C	NP_001123927.1:p.Gly1363Arg
NM_001130976.2:c.4042G>C	NP_001124448.1:p.Gly1348Arg
NM_001130977.2:c.4042G>C	NP_001124449.1:p.Gly1348Arg
NM_001130978.2:c.4084G>C	NP_001124450.1:p.Gly1362Arg
NM_001130979.2:c.4177G>C	NP_001124451.1:p.Gly1393Arg
NM_001130980.2:c.4135G>C	NP_001124452.1:p.Gly1379Arg
NM_001130981.2:c.4135G>C	NP_001124453.1:p.Gly1379Arg
NM_001130982.2:c.4180G>C	NP_001124454.1:p.Gly1394Arg
NM_001130983.2:c.4087G>C	NP_001124455.1:p.Gly1363Arg
NM_001130984.2:c.4045G>C	NP_001124456.1:p.Gly1349Arg
NM_001130985.2:c.4138G>C	NP_001124457.1:p.Gly1380Arg
NM_001130986.2:c.4045G>C	NP_001124458.1:p.Gly1349Arg
NM_003494.4:c.4084G>C MANE Plus Clinical	NP_003485.1:p.Gly1362Arg