Canonical Allele Identifier: CA347226297

Gene: DYSF

Linked Data

• ClinVar Variation Id: 2201500
• ClinVar RCV Id: RCV002654996
• dbSNP Id: rs2095263224
• gnomAD v4: 2-71679098-A-G
• MyVariant Identifiers: chr2:g.71906228A>G (hg19) ; chr2:g.71679098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679098A>G , CM000664.2:g.71679098A>G	GRCh38
NC_000002.11:g.71906228A>G , CM000664.1:g.71906228A>G	GRCh37
NC_000002.10:g.71759736A>G	NCBI36
NG_008694.1:g.230476A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3340A>G	ENSP00000513536.1:p.Lys1114Glu
ENST00000698058.1:c.2557A>G	ENSP00000513537.1:p.Lys853Glu
ENST00000698059.1:c.2665A>G	ENSP00000513538.1:p.Lys889Glu
ENST00000258104.8:c.5809A>G MANE Plus Clinical	ENSP00000258104.3:p.Lys1937Glu
ENST00000410020.8:c.5926A>G MANE Select	ENSP00000386881.3:p.Lys1976Glu
ENST00000258104.7:c.5809A>G	ENSP00000258104.3:p.Lys1937Glu
ENST00000394120.6:c.5812A>G	ENSP00000377678.2:p.Lys1938Glu
ENST00000409366.5:c.5875A>G	ENSP00000386512.1:p.Lys1959Glu
ENST00000409582.7:c.5923A>G	ENSP00000386547.3:p.Lys1975Glu
ENST00000409651.5:c.5905A>G	ENSP00000386683.1:p.Lys1969Glu
ENST00000409744.5:c.5833A>G	ENSP00000386285.1:p.Lys1945Glu
ENST00000409762.5:c.5860A>G	ENSP00000387137.1:p.Lys1954Glu
ENST00000410020.7:c.5926A>G	ENSP00000386881.3:p.Lys1976Glu
ENST00000410041.1:c.5863A>G	ENSP00000386617.1:p.Lys1955Glu
ENST00000413539.6:c.5902A>G	ENSP00000407046.2:p.Lys1968Glu
ENST00000429174.6:c.5872A>G	ENSP00000398305.2:p.Lys1958Glu
ENST00000479049.6:n.2694A>G
NM_001130455.1:c.5812A>G	NP_001123927.1:p.Lys1938Glu
NM_001130976.1:c.5767A>G	NP_001124448.1:p.Lys1923Glu
NM_001130977.1:c.5830A>G	NP_001124449.1:p.Lys1944Glu
NM_001130978.1:c.5872A>G	NP_001124450.1:p.Lys1958Glu
NM_001130979.1:c.5902A>G	NP_001124451.1:p.Lys1968Glu
NM_001130980.1:c.5860A>G	NP_001124452.1:p.Lys1954Glu
NM_001130981.1:c.5923A>G	NP_001124453.1:p.Lys1975Glu
NM_001130982.1:c.5905A>G	NP_001124454.1:p.Lys1969Glu
NM_001130983.1:c.5875A>G	NP_001124455.1:p.Lys1959Glu
NM_001130984.1:c.5833A>G	NP_001124456.1:p.Lys1945Glu
NM_001130985.1:c.5863A>G	NP_001124457.1:p.Lys1955Glu
NM_001130986.1:c.5770A>G	NP_001124458.1:p.Lys1924Glu
NM_001130987.1:c.5926A>G	NP_001124459.1:p.Lys1976Glu
NM_003494.3:c.5809A>G	NP_003485.1:p.Lys1937Glu
XM_005264584.3:c.5968A>G	XP_005264641.1:p.Lys1990Glu
XM_005264585.3:c.5965A>G	XP_005264642.1:p.Lys1989Glu
XM_005264584.4:c.5968A>G	XP_005264641.1:p.Lys1990Glu
XM_005264585.5:c.5965A>G	XP_005264642.1:p.Lys1989Glu
NM_001130987.2:c.5926A>G MANE Select	NP_001124459.1:p.Lys1976Glu
NM_001130455.2:c.5812A>G	NP_001123927.1:p.Lys1938Glu
NM_001130976.2:c.5767A>G	NP_001124448.1:p.Lys1923Glu
NM_001130977.2:c.5830A>G	NP_001124449.1:p.Lys1944Glu
NM_001130978.2:c.5872A>G	NP_001124450.1:p.Lys1958Glu
NM_001130979.2:c.5902A>G	NP_001124451.1:p.Lys1968Glu
NM_001130980.2:c.5860A>G	NP_001124452.1:p.Lys1954Glu
NM_001130981.2:c.5923A>G	NP_001124453.1:p.Lys1975Glu
NM_001130982.2:c.5905A>G	NP_001124454.1:p.Lys1969Glu
NM_001130983.2:c.5875A>G	NP_001124455.1:p.Lys1959Glu
NM_001130984.2:c.5833A>G	NP_001124456.1:p.Lys1945Glu
NM_001130985.2:c.5863A>G	NP_001124457.1:p.Lys1955Glu
NM_001130986.2:c.5770A>G	NP_001124458.1:p.Lys1924Glu
NM_003494.4:c.5809A>G MANE Plus Clinical	NP_003485.1:p.Lys1937Glu