Canonical Allele Identifier: CA10604436

Gene: DYSF

Linked Data

• ClinVar Variation Id: 283243
• ClinVar RCV Id: RCV000595427 ; RCV000725239 ; RCV003463747
• dbSNP Id: rs886042584
• gnomAD v4: 2-71669126-G-T
• MyVariant Identifiers: chr2:g.71896256G>T (hg19) ; chr2:g.71669126G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669126G>T , CM000664.2:g.71669126G>T	GRCh38
NC_000002.11:g.71896256G>T , CM000664.1:g.71896256G>T	GRCh37
NC_000002.10:g.71749764G>T	NCBI36
NG_008694.1:g.220504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2975G>T	ENSP00000513536.1:p.Cys992Phe
ENST00000698058.1:c.2192G>T	ENSP00000513537.1:p.Cys731Phe
ENST00000698059.1:c.2300G>T	ENSP00000513538.1:p.Cys767Phe
ENST00000258104.8:c.5444G>T MANE Plus Clinical	ENSP00000258104.3:p.Cys1815Phe
ENST00000410020.8:c.5561G>T MANE Select	ENSP00000386881.3:p.Cys1854Phe
ENST00000258104.7:c.5444G>T	ENSP00000258104.3:p.Cys1815Phe
ENST00000394120.6:c.5447G>T	ENSP00000377678.2:p.Cys1816Phe
ENST00000409366.5:c.5510G>T	ENSP00000386512.1:p.Cys1837Phe
ENST00000409582.7:c.5558G>T	ENSP00000386547.3:p.Cys1853Phe
ENST00000409651.5:c.5540G>T	ENSP00000386683.1:p.Cys1847Phe
ENST00000409744.5:c.5468G>T	ENSP00000386285.1:p.Cys1823Phe
ENST00000409762.5:c.5495G>T	ENSP00000387137.1:p.Cys1832Phe
ENST00000410020.7:c.5561G>T	ENSP00000386881.3:p.Cys1854Phe
ENST00000410041.1:c.5498G>T	ENSP00000386617.1:p.Cys1833Phe
ENST00000413539.6:c.5537G>T	ENSP00000407046.2:p.Cys1846Phe
ENST00000429174.6:c.5507G>T	ENSP00000398305.2:p.Cys1836Phe
ENST00000479049.6:n.2329G>T
NM_001130455.1:c.5447G>T	NP_001123927.1:p.Cys1816Phe
NM_001130976.1:c.5402G>T	NP_001124448.1:p.Cys1801Phe
NM_001130977.1:c.5465G>T	NP_001124449.1:p.Cys1822Phe
NM_001130978.1:c.5507G>T	NP_001124450.1:p.Cys1836Phe
NM_001130979.1:c.5537G>T	NP_001124451.1:p.Cys1846Phe
NM_001130980.1:c.5495G>T	NP_001124452.1:p.Cys1832Phe
NM_001130981.1:c.5558G>T	NP_001124453.1:p.Cys1853Phe
NM_001130982.1:c.5540G>T	NP_001124454.1:p.Cys1847Phe
NM_001130983.1:c.5510G>T	NP_001124455.1:p.Cys1837Phe
NM_001130984.1:c.5468G>T	NP_001124456.1:p.Cys1823Phe
NM_001130985.1:c.5498G>T	NP_001124457.1:p.Cys1833Phe
NM_001130986.1:c.5405G>T	NP_001124458.1:p.Cys1802Phe
NM_001130987.1:c.5561G>T	NP_001124459.1:p.Cys1854Phe
NM_003494.3:c.5444G>T	NP_003485.1:p.Cys1815Phe
XM_005264584.3:c.5603G>T	XP_005264641.1:p.Cys1868Phe
XM_005264585.3:c.5600G>T	XP_005264642.1:p.Cys1867Phe
XM_005264584.4:c.5603G>T	XP_005264641.1:p.Cys1868Phe
XM_005264585.5:c.5600G>T	XP_005264642.1:p.Cys1867Phe
NM_001130987.2:c.5561G>T MANE Select	NP_001124459.1:p.Cys1854Phe
NM_001130455.2:c.5447G>T	NP_001123927.1:p.Cys1816Phe
NM_001130976.2:c.5402G>T	NP_001124448.1:p.Cys1801Phe
NM_001130977.2:c.5465G>T	NP_001124449.1:p.Cys1822Phe
NM_001130978.2:c.5507G>T	NP_001124450.1:p.Cys1836Phe
NM_001130979.2:c.5537G>T	NP_001124451.1:p.Cys1846Phe
NM_001130980.2:c.5495G>T	NP_001124452.1:p.Cys1832Phe
NM_001130981.2:c.5558G>T	NP_001124453.1:p.Cys1853Phe
NM_001130982.2:c.5540G>T	NP_001124454.1:p.Cys1847Phe
NM_001130983.2:c.5510G>T	NP_001124455.1:p.Cys1837Phe
NM_001130984.2:c.5468G>T	NP_001124456.1:p.Cys1823Phe
NM_001130985.2:c.5498G>T	NP_001124457.1:p.Cys1833Phe
NM_001130986.2:c.5405G>T	NP_001124458.1:p.Cys1802Phe
NM_003494.4:c.5444G>T MANE Plus Clinical	NP_003485.1:p.Cys1815Phe