Canonical Allele Identifier: CA658795809

Gene: DYSF

Linked Data

• ClinVar Variation Id: 511436
• ClinVar RCV Id: RCV000609185
• dbSNP Id: rs1553495883
• MyVariant Identifiers: chr2:g.71681117C>G (hg19) ; chr2:g.71453987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71453987C>G , CM000664.2:g.71453987C>G	GRCh38
NC_000002.11:g.71681117C>G , CM000664.1:g.71681117C>G	GRCh37
NC_000002.10:g.71534625C>G	NCBI36
NG_008694.1:g.5365C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.-12C>G MANE Plus Clinical	ENSP00000258104.3:n.-12C>G
ENST00000258104.7:c.-12C>G	ENSP00000258104.3:n.-12C>G
ENST00000409582.7:c.-12C>G	ENSP00000386547.3:n.-12C>G
ENST00000409762.5:c.-12C>G	ENSP00000387137.1:n.-12C>G
ENST00000413539.6:c.-12C>G	ENSP00000407046.2:n.-12C>G
ENST00000429174.6:c.-12C>G	ENSP00000398305.2:n.-12C>G
NM_001130976.1:c.-12C>G	NP_001124448.1:n.-12C>G
NM_001130977.1:c.-12C>G	NP_001124449.1:n.-12C>G
NM_001130978.1:c.-12C>G	NP_001124450.1:n.-12C>G
NM_001130979.1:c.-12C>G	NP_001124451.1:n.-12C>G
NM_001130980.1:c.-12C>G	NP_001124452.1:n.-12C>G
NM_001130981.1:c.-12C>G	NP_001124453.1:n.-12C>G
NM_003494.3:c.-12C>G	NP_003485.1:n.-12C>G
XM_005264585.3:c.-12C>G	XP_005264642.1:n.-12C>G
XM_005264585.5:c.-12C>G	XP_005264642.1:n.-12C>G
NM_001130976.2:c.-12C>G	NP_001124448.1:n.-12C>G
NM_001130977.2:c.-12C>G	NP_001124449.1:n.-12C>G
NM_001130978.2:c.-12C>G	NP_001124450.1:n.-12C>G
NM_001130979.2:c.-12C>G	NP_001124451.1:n.-12C>G
NM_001130980.2:c.-12C>G	NP_001124452.1:n.-12C>G
NM_001130981.2:c.-12C>G	NP_001124453.1:n.-12C>G
NM_003494.4:c.-12C>G MANE Plus Clinical	NP_003485.1:n.-12C>G