Canonical Allele Identifier: CA347226300

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906229A>G (hg19) ; chr2:g.71679099A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679099A>G , CM000664.2:g.71679099A>G	GRCh38
NC_000002.11:g.71906229A>G , CM000664.1:g.71906229A>G	GRCh37
NC_000002.10:g.71759737A>G	NCBI36
NG_008694.1:g.230477A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3341A>G	ENSP00000513536.1:p.Lys1114Arg
ENST00000698058.1:c.2558A>G	ENSP00000513537.1:p.Lys853Arg
ENST00000698059.1:c.2666A>G	ENSP00000513538.1:p.Lys889Arg
ENST00000258104.8:c.5810A>G MANE Plus Clinical	ENSP00000258104.3:p.Lys1937Arg
ENST00000410020.8:c.5927A>G MANE Select	ENSP00000386881.3:p.Lys1976Arg
ENST00000258104.7:c.5810A>G	ENSP00000258104.3:p.Lys1937Arg
ENST00000394120.6:c.5813A>G	ENSP00000377678.2:p.Lys1938Arg
ENST00000409366.5:c.5876A>G	ENSP00000386512.1:p.Lys1959Arg
ENST00000409582.7:c.5924A>G	ENSP00000386547.3:p.Lys1975Arg
ENST00000409651.5:c.5906A>G	ENSP00000386683.1:p.Lys1969Arg
ENST00000409744.5:c.5834A>G	ENSP00000386285.1:p.Lys1945Arg
ENST00000409762.5:c.5861A>G	ENSP00000387137.1:p.Lys1954Arg
ENST00000410020.7:c.5927A>G	ENSP00000386881.3:p.Lys1976Arg
ENST00000410041.1:c.5864A>G	ENSP00000386617.1:p.Lys1955Arg
ENST00000413539.6:c.5903A>G	ENSP00000407046.2:p.Lys1968Arg
ENST00000429174.6:c.5873A>G	ENSP00000398305.2:p.Lys1958Arg
ENST00000479049.6:n.2695A>G
NM_001130455.1:c.5813A>G	NP_001123927.1:p.Lys1938Arg
NM_001130976.1:c.5768A>G	NP_001124448.1:p.Lys1923Arg
NM_001130977.1:c.5831A>G	NP_001124449.1:p.Lys1944Arg
NM_001130978.1:c.5873A>G	NP_001124450.1:p.Lys1958Arg
NM_001130979.1:c.5903A>G	NP_001124451.1:p.Lys1968Arg
NM_001130980.1:c.5861A>G	NP_001124452.1:p.Lys1954Arg
NM_001130981.1:c.5924A>G	NP_001124453.1:p.Lys1975Arg
NM_001130982.1:c.5906A>G	NP_001124454.1:p.Lys1969Arg
NM_001130983.1:c.5876A>G	NP_001124455.1:p.Lys1959Arg
NM_001130984.1:c.5834A>G	NP_001124456.1:p.Lys1945Arg
NM_001130985.1:c.5864A>G	NP_001124457.1:p.Lys1955Arg
NM_001130986.1:c.5771A>G	NP_001124458.1:p.Lys1924Arg
NM_001130987.1:c.5927A>G	NP_001124459.1:p.Lys1976Arg
NM_003494.3:c.5810A>G	NP_003485.1:p.Lys1937Arg
XM_005264584.3:c.5969A>G	XP_005264641.1:p.Lys1990Arg
XM_005264585.3:c.5966A>G	XP_005264642.1:p.Lys1989Arg
XM_005264584.4:c.5969A>G	XP_005264641.1:p.Lys1990Arg
XM_005264585.5:c.5966A>G	XP_005264642.1:p.Lys1989Arg
NM_001130987.2:c.5927A>G MANE Select	NP_001124459.1:p.Lys1976Arg
NM_001130455.2:c.5813A>G	NP_001123927.1:p.Lys1938Arg
NM_001130976.2:c.5768A>G	NP_001124448.1:p.Lys1923Arg
NM_001130977.2:c.5831A>G	NP_001124449.1:p.Lys1944Arg
NM_001130978.2:c.5873A>G	NP_001124450.1:p.Lys1958Arg
NM_001130979.2:c.5903A>G	NP_001124451.1:p.Lys1968Arg
NM_001130980.2:c.5861A>G	NP_001124452.1:p.Lys1954Arg
NM_001130981.2:c.5924A>G	NP_001124453.1:p.Lys1975Arg
NM_001130982.2:c.5906A>G	NP_001124454.1:p.Lys1969Arg
NM_001130983.2:c.5876A>G	NP_001124455.1:p.Lys1959Arg
NM_001130984.2:c.5834A>G	NP_001124456.1:p.Lys1945Arg
NM_001130985.2:c.5864A>G	NP_001124457.1:p.Lys1955Arg
NM_001130986.2:c.5771A>G	NP_001124458.1:p.Lys1924Arg
NM_003494.4:c.5810A>G MANE Plus Clinical	NP_003485.1:p.Lys1937Arg