Canonical Allele Identifier: CA347226323

Gene: DYSF

Linked Data

• ClinVar Variation Id: 501036
• ClinVar RCV Id: RCV000594534 ; RCV000798409
• dbSNP Id: rs1553420738
• gnomAD v4: 2-71679110-A-T
• MyVariant Identifiers: chr2:g.71906240A>T (hg19) ; chr2:g.71679110A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679110A>T , CM000664.2:g.71679110A>T	GRCh38
NC_000002.11:g.71906240A>T , CM000664.1:g.71906240A>T	GRCh37
NC_000002.10:g.71759748A>T	NCBI36
NG_008694.1:g.230488A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3352A>T	ENSP00000513536.1:p.Lys1118Ter
ENST00000698058.1:c.2569A>T	ENSP00000513537.1:p.Lys857Ter
ENST00000698059.1:c.2677A>T	ENSP00000513538.1:p.Lys893Ter
ENST00000258104.8:c.5821A>T MANE Plus Clinical	ENSP00000258104.3:p.Lys1941Ter
ENST00000410020.8:c.5938A>T MANE Select	ENSP00000386881.3:p.Lys1980Ter
ENST00000258104.7:c.5821A>T	ENSP00000258104.3:p.Lys1941Ter
ENST00000394120.6:c.5824A>T	ENSP00000377678.2:p.Lys1942Ter
ENST00000409366.5:c.5887A>T	ENSP00000386512.1:p.Lys1963Ter
ENST00000409582.7:c.5935A>T	ENSP00000386547.3:p.Lys1979Ter
ENST00000409651.5:c.5917A>T	ENSP00000386683.1:p.Lys1973Ter
ENST00000409744.5:c.5845A>T	ENSP00000386285.1:p.Lys1949Ter
ENST00000409762.5:c.5872A>T	ENSP00000387137.1:p.Lys1958Ter
ENST00000410020.7:c.5938A>T	ENSP00000386881.3:p.Lys1980Ter
ENST00000410041.1:c.5875A>T	ENSP00000386617.1:p.Lys1959Ter
ENST00000413539.6:c.5914A>T	ENSP00000407046.2:p.Lys1972Ter
ENST00000429174.6:c.5884A>T	ENSP00000398305.2:p.Lys1962Ter
ENST00000479049.6:n.2706A>T
NM_001130455.1:c.5824A>T	NP_001123927.1:p.Lys1942Ter
NM_001130976.1:c.5779A>T	NP_001124448.1:p.Lys1927Ter
NM_001130977.1:c.5842A>T	NP_001124449.1:p.Lys1948Ter
NM_001130978.1:c.5884A>T	NP_001124450.1:p.Lys1962Ter
NM_001130979.1:c.5914A>T	NP_001124451.1:p.Lys1972Ter
NM_001130980.1:c.5872A>T	NP_001124452.1:p.Lys1958Ter
NM_001130981.1:c.5935A>T	NP_001124453.1:p.Lys1979Ter
NM_001130982.1:c.5917A>T	NP_001124454.1:p.Lys1973Ter
NM_001130983.1:c.5887A>T	NP_001124455.1:p.Lys1963Ter
NM_001130984.1:c.5845A>T	NP_001124456.1:p.Lys1949Ter
NM_001130985.1:c.5875A>T	NP_001124457.1:p.Lys1959Ter
NM_001130986.1:c.5782A>T	NP_001124458.1:p.Lys1928Ter
NM_001130987.1:c.5938A>T	NP_001124459.1:p.Lys1980Ter
NM_003494.3:c.5821A>T	NP_003485.1:p.Lys1941Ter
XM_005264584.3:c.5980A>T	XP_005264641.1:p.Lys1994Ter
XM_005264585.3:c.5977A>T	XP_005264642.1:p.Lys1993Ter
XM_005264584.4:c.5980A>T	XP_005264641.1:p.Lys1994Ter
XM_005264585.5:c.5977A>T	XP_005264642.1:p.Lys1993Ter
NM_001130987.2:c.5938A>T MANE Select	NP_001124459.1:p.Lys1980Ter
NM_001130455.2:c.5824A>T	NP_001123927.1:p.Lys1942Ter
NM_001130976.2:c.5779A>T	NP_001124448.1:p.Lys1927Ter
NM_001130977.2:c.5842A>T	NP_001124449.1:p.Lys1948Ter
NM_001130978.2:c.5884A>T	NP_001124450.1:p.Lys1962Ter
NM_001130979.2:c.5914A>T	NP_001124451.1:p.Lys1972Ter
NM_001130980.2:c.5872A>T	NP_001124452.1:p.Lys1958Ter
NM_001130981.2:c.5935A>T	NP_001124453.1:p.Lys1979Ter
NM_001130982.2:c.5917A>T	NP_001124454.1:p.Lys1973Ter
NM_001130983.2:c.5887A>T	NP_001124455.1:p.Lys1963Ter
NM_001130984.2:c.5845A>T	NP_001124456.1:p.Lys1949Ter
NM_001130985.2:c.5875A>T	NP_001124457.1:p.Lys1959Ter
NM_001130986.2:c.5782A>T	NP_001124458.1:p.Lys1928Ter
NM_003494.4:c.5821A>T MANE Plus Clinical	NP_003485.1:p.Lys1941Ter