Canonical Allele Identifier: CA10603819

Gene: DYSF

Linked Data

• ClinVar Variation Id: 281197
• ClinVar RCV Id: RCV000353624 ; RCV000591407 ; RCV001855080 ; RCV003469219
• dbSNP Id: rs886042110
• MyVariant Identifiers: chr2:g.71889030G>T (hg19) ; chr2:g.71661900G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71661900G>T , CM000664.2:g.71661900G>T	GRCh38
NC_000002.11:g.71889030G>T , CM000664.1:g.71889030G>T	GRCh37
NC_000002.10:g.71742538G>T	NCBI36
NG_008694.1:g.213278G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2417+1249G>T	ENSP00000513536.1:n.2417+1249G>T
ENST00000698058.1:c.1634+1249G>T	ENSP00000513537.1:n.1634+1249G>T
ENST00000698059.1:c.1742+1249G>T	ENSP00000513538.1:n.1742+1249G>T
ENST00000258104.8:c.4886+1249G>T MANE Plus Clinical	ENSP00000258104.3:n.4886+1249G>T
ENST00000410020.8:c.5003+1249G>T MANE Select	ENSP00000386881.3:n.5003+1249G>T
ENST00000258104.7:c.4886+1249G>T	ENSP00000258104.3:n.4886+1249G>T
ENST00000394120.6:c.4889+1249G>T	ENSP00000377678.2:n.4889+1249G>T
ENST00000409366.5:c.4952+1249G>T	ENSP00000386512.1:n.4952+1249G>T
ENST00000409582.7:c.5000+1249G>T	ENSP00000386547.3:n.5000+1249G>T
ENST00000409651.5:c.4982+1249G>T	ENSP00000386683.1:n.4982+1249G>T
ENST00000409744.5:c.4910+1249G>T	ENSP00000386285.1:n.4910+1249G>T
ENST00000409762.5:c.4937+1249G>T	ENSP00000387137.1:n.4937+1249G>T
ENST00000410020.7:c.5003+1249G>T	ENSP00000386881.3:n.5003+1249G>T
ENST00000410041.1:c.4940+1249G>T	ENSP00000386617.1:n.4940+1249G>T
ENST00000413539.6:c.4979+1249G>T	ENSP00000407046.2:n.4979+1249G>T
ENST00000429174.6:c.4949+1249G>T	ENSP00000398305.2:n.4949+1249G>T
ENST00000479049.6:n.1771+1249G>T
NM_001130455.1:c.4889+1249G>T	NP_001123927.1:n.4889+1249G>T
NM_001130976.1:c.4844+1249G>T	NP_001124448.1:n.4844+1249G>T
NM_001130977.1:c.4907+1249G>T	NP_001124449.1:n.4907+1249G>T
NM_001130978.1:c.4949+1249G>T	NP_001124450.1:n.4949+1249G>T
NM_001130979.1:c.4979+1249G>T	NP_001124451.1:n.4979+1249G>T
NM_001130980.1:c.4937+1249G>T	NP_001124452.1:n.4937+1249G>T
NM_001130981.1:c.5000+1249G>T	NP_001124453.1:n.5000+1249G>T
NM_001130982.1:c.4982+1249G>T	NP_001124454.1:n.4982+1249G>T
NM_001130983.1:c.4952+1249G>T	NP_001124455.1:n.4952+1249G>T
NM_001130984.1:c.4910+1249G>T	NP_001124456.1:n.4910+1249G>T
NM_001130985.1:c.4940+1249G>T	NP_001124457.1:n.4940+1249G>T
NM_001130986.1:c.4847+1249G>T	NP_001124458.1:n.4847+1249G>T
NM_001130987.1:c.5003+1249G>T	NP_001124459.1:n.5003+1249G>T
NM_003494.3:c.4886+1249G>T	NP_003485.1:n.4886+1249G>T
XM_005264584.3:c.5045+1249G>T	XP_005264641.1:n.5045+1249G>T
XM_005264585.3:c.5042+1249G>T	XP_005264642.1:n.5042+1249G>T
XM_005264584.4:c.5045+1249G>T	XP_005264641.1:n.5045+1249G>T
XM_005264585.5:c.5042+1249G>T	XP_005264642.1:n.5042+1249G>T
XR_001738969.1:n.5203+1249G>T
NM_001130987.2:c.5003+1249G>T MANE Select	NP_001124459.1:n.5003+1249G>T
NM_001130455.2:c.4889+1249G>T	NP_001123927.1:n.4889+1249G>T
NM_001130976.2:c.4844+1249G>T	NP_001124448.1:n.4844+1249G>T
NM_001130977.2:c.4907+1249G>T	NP_001124449.1:n.4907+1249G>T
NM_001130978.2:c.4949+1249G>T	NP_001124450.1:n.4949+1249G>T
NM_001130979.2:c.4979+1249G>T	NP_001124451.1:n.4979+1249G>T
NM_001130980.2:c.4937+1249G>T	NP_001124452.1:n.4937+1249G>T
NM_001130981.2:c.5000+1249G>T	NP_001124453.1:n.5000+1249G>T
NM_001130982.2:c.4982+1249G>T	NP_001124454.1:n.4982+1249G>T
NM_001130983.2:c.4952+1249G>T	NP_001124455.1:n.4952+1249G>T
NM_001130984.2:c.4910+1249G>T	NP_001124456.1:n.4910+1249G>T
NM_001130985.2:c.4940+1249G>T	NP_001124457.1:n.4940+1249G>T
NM_001130986.2:c.4847+1249G>T	NP_001124458.1:n.4847+1249G>T
NM_003494.4:c.4886+1249G>T MANE Plus Clinical	NP_003485.1:n.4886+1249G>T