Canonical Allele Identifier: CA347221697

Gene: DYSF

Linked Data

• ClinVar Variation Id: 471317
• ClinVar RCV Id: RCV000531309
• dbSNP Id: rs1553415109
• MyVariant Identifiers: chr2:g.71895893C>T (hg19) ; chr2:g.71668763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71668763C>T , CM000664.2:g.71668763C>T	GRCh38
NC_000002.11:g.71895893C>T , CM000664.1:g.71895893C>T	GRCh37
NC_000002.10:g.71749401C>T	NCBI36
NG_008694.1:g.220141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2881C>T	ENSP00000513536.1:p.Gln961Ter
ENST00000698058.1:c.2098C>T	ENSP00000513537.1:p.Gln700Ter
ENST00000698059.1:c.2206C>T	ENSP00000513538.1:p.Gln736Ter
ENST00000258104.8:c.5350C>T MANE Plus Clinical	ENSP00000258104.3:p.Gln1784Ter
ENST00000410020.8:c.5467C>T MANE Select	ENSP00000386881.3:p.Gln1823Ter
ENST00000258104.7:c.5350C>T	ENSP00000258104.3:p.Gln1784Ter
ENST00000394120.6:c.5353C>T	ENSP00000377678.2:p.Gln1785Ter
ENST00000409366.5:c.5416C>T	ENSP00000386512.1:p.Gln1806Ter
ENST00000409582.7:c.5464C>T	ENSP00000386547.3:p.Gln1822Ter
ENST00000409651.5:c.5446C>T	ENSP00000386683.1:p.Gln1816Ter
ENST00000409744.5:c.5374C>T	ENSP00000386285.1:p.Gln1792Ter
ENST00000409762.5:c.5401C>T	ENSP00000387137.1:p.Gln1801Ter
ENST00000410020.7:c.5467C>T	ENSP00000386881.3:p.Gln1823Ter
ENST00000410041.1:c.5404C>T	ENSP00000386617.1:p.Gln1802Ter
ENST00000413539.6:c.5443C>T	ENSP00000407046.2:p.Gln1815Ter
ENST00000429174.6:c.5413C>T	ENSP00000398305.2:p.Gln1805Ter
ENST00000479049.6:n.2235C>T
NM_001130455.1:c.5353C>T	NP_001123927.1:p.Gln1785Ter
NM_001130976.1:c.5308C>T	NP_001124448.1:p.Gln1770Ter
NM_001130977.1:c.5371C>T	NP_001124449.1:p.Gln1791Ter
NM_001130978.1:c.5413C>T	NP_001124450.1:p.Gln1805Ter
NM_001130979.1:c.5443C>T	NP_001124451.1:p.Gln1815Ter
NM_001130980.1:c.5401C>T	NP_001124452.1:p.Gln1801Ter
NM_001130981.1:c.5464C>T	NP_001124453.1:p.Gln1822Ter
NM_001130982.1:c.5446C>T	NP_001124454.1:p.Gln1816Ter
NM_001130983.1:c.5416C>T	NP_001124455.1:p.Gln1806Ter
NM_001130984.1:c.5374C>T	NP_001124456.1:p.Gln1792Ter
NM_001130985.1:c.5404C>T	NP_001124457.1:p.Gln1802Ter
NM_001130986.1:c.5311C>T	NP_001124458.1:p.Gln1771Ter
NM_001130987.1:c.5467C>T	NP_001124459.1:p.Gln1823Ter
NM_003494.3:c.5350C>T	NP_003485.1:p.Gln1784Ter
XM_005264584.3:c.5509C>T	XP_005264641.1:p.Gln1837Ter
XM_005264585.3:c.5506C>T	XP_005264642.1:p.Gln1836Ter
XM_005264584.4:c.5509C>T	XP_005264641.1:p.Gln1837Ter
XM_005264585.5:c.5506C>T	XP_005264642.1:p.Gln1836Ter
NM_001130987.2:c.5467C>T MANE Select	NP_001124459.1:p.Gln1823Ter
NM_001130455.2:c.5353C>T	NP_001123927.1:p.Gln1785Ter
NM_001130976.2:c.5308C>T	NP_001124448.1:p.Gln1770Ter
NM_001130977.2:c.5371C>T	NP_001124449.1:p.Gln1791Ter
NM_001130978.2:c.5413C>T	NP_001124450.1:p.Gln1805Ter
NM_001130979.2:c.5443C>T	NP_001124451.1:p.Gln1815Ter
NM_001130980.2:c.5401C>T	NP_001124452.1:p.Gln1801Ter
NM_001130981.2:c.5464C>T	NP_001124453.1:p.Gln1822Ter
NM_001130982.2:c.5446C>T	NP_001124454.1:p.Gln1816Ter
NM_001130983.2:c.5416C>T	NP_001124455.1:p.Gln1806Ter
NM_001130984.2:c.5374C>T	NP_001124456.1:p.Gln1792Ter
NM_001130985.2:c.5404C>T	NP_001124457.1:p.Gln1802Ter
NM_001130986.2:c.5311C>T	NP_001124458.1:p.Gln1771Ter
NM_003494.4:c.5350C>T MANE Plus Clinical	NP_003485.1:p.Gln1784Ter