Canonical Allele Identifier: CA347205929

Gene: DYSF

Linked Data

• ClinVar Variation Id: 502095
• ClinVar RCV Id: RCV000598153 ; RCV001273958 ; RCV001041107
• dbSNP Id: rs1354334539
• gnomAD v4: 2-71454015-T-A
• MyVariant Identifiers: chr2:g.71681145T>A (hg19) ; chr2:g.71454015T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71454015T>A , CM000664.2:g.71454015T>A	GRCh38
NC_000002.11:g.71681145T>A , CM000664.1:g.71681145T>A	GRCh37
NC_000002.10:g.71534653T>A	NCBI36
NG_008694.1:g.5393T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.17T>A MANE Plus Clinical	ENSP00000258104.3:p.Ile6Asn
ENST00000258104.7:c.17T>A	ENSP00000258104.3:p.Ile6Asn
ENST00000409582.7:c.17T>A	ENSP00000386547.3:p.Ile6Asn
ENST00000409762.5:c.17T>A	ENSP00000387137.1:p.Ile6Asn
ENST00000413539.6:c.17T>A	ENSP00000407046.2:p.Ile6Asn
ENST00000429174.6:c.17T>A	ENSP00000398305.2:p.Ile6Asn
NM_001130976.1:c.17T>A	NP_001124448.1:p.Ile6Asn
NM_001130977.1:c.17T>A	NP_001124449.1:p.Ile6Asn
NM_001130978.1:c.17T>A	NP_001124450.1:p.Ile6Asn
NM_001130979.1:c.17T>A	NP_001124451.1:p.Ile6Asn
NM_001130980.1:c.17T>A	NP_001124452.1:p.Ile6Asn
NM_001130981.1:c.17T>A	NP_001124453.1:p.Ile6Asn
NM_003494.3:c.17T>A	NP_003485.1:p.Ile6Asn
XM_005264585.3:c.17T>A	XP_005264642.1:p.Ile6Asn
XM_005264585.5:c.17T>A	XP_005264642.1:p.Ile6Asn
NM_001130976.2:c.17T>A	NP_001124448.1:p.Ile6Asn
NM_001130977.2:c.17T>A	NP_001124449.1:p.Ile6Asn
NM_001130978.2:c.17T>A	NP_001124450.1:p.Ile6Asn
NM_001130979.2:c.17T>A	NP_001124451.1:p.Ile6Asn
NM_001130980.2:c.17T>A	NP_001124452.1:p.Ile6Asn
NM_001130981.2:c.17T>A	NP_001124453.1:p.Ile6Asn
NM_003494.4:c.17T>A MANE Plus Clinical	NP_003485.1:p.Ile6Asn