Canonical Allele Identifier: CA347224099

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896856G>C (hg19) ; chr2:g.71669726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669726G>C , CM000664.2:g.71669726G>C	GRCh38
NC_000002.11:g.71896856G>C , CM000664.1:g.71896856G>C	GRCh37
NC_000002.10:g.71750364G>C	NCBI36
NG_008694.1:g.221104G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3178G>C	ENSP00000513536.1:p.Val1060Leu
ENST00000698058.1:c.2395G>C	ENSP00000513537.1:p.Val799Leu
ENST00000698059.1:c.2503G>C	ENSP00000513538.1:p.Val835Leu
ENST00000258104.8:c.5647G>C MANE Plus Clinical	ENSP00000258104.3:p.Val1883Leu
ENST00000410020.8:c.5764G>C MANE Select	ENSP00000386881.3:p.Val1922Leu
ENST00000258104.7:c.5647G>C	ENSP00000258104.3:p.Val1883Leu
ENST00000394120.6:c.5650G>C	ENSP00000377678.2:p.Val1884Leu
ENST00000409366.5:c.5713G>C	ENSP00000386512.1:p.Val1905Leu
ENST00000409582.7:c.5761G>C	ENSP00000386547.3:p.Val1921Leu
ENST00000409651.5:c.5743G>C	ENSP00000386683.1:p.Val1915Leu
ENST00000409744.5:c.5671G>C	ENSP00000386285.1:p.Val1891Leu
ENST00000409762.5:c.5698G>C	ENSP00000387137.1:p.Val1900Leu
ENST00000410020.7:c.5764G>C	ENSP00000386881.3:p.Val1922Leu
ENST00000410041.1:c.5701G>C	ENSP00000386617.1:p.Val1901Leu
ENST00000413539.6:c.5740G>C	ENSP00000407046.2:p.Val1914Leu
ENST00000429174.6:c.5710G>C	ENSP00000398305.2:p.Val1904Leu
ENST00000479049.6:n.2532G>C
NM_001130455.1:c.5650G>C	NP_001123927.1:p.Val1884Leu
NM_001130976.1:c.5605G>C	NP_001124448.1:p.Val1869Leu
NM_001130977.1:c.5668G>C	NP_001124449.1:p.Val1890Leu
NM_001130978.1:c.5710G>C	NP_001124450.1:p.Val1904Leu
NM_001130979.1:c.5740G>C	NP_001124451.1:p.Val1914Leu
NM_001130980.1:c.5698G>C	NP_001124452.1:p.Val1900Leu
NM_001130981.1:c.5761G>C	NP_001124453.1:p.Val1921Leu
NM_001130982.1:c.5743G>C	NP_001124454.1:p.Val1915Leu
NM_001130983.1:c.5713G>C	NP_001124455.1:p.Val1905Leu
NM_001130984.1:c.5671G>C	NP_001124456.1:p.Val1891Leu
NM_001130985.1:c.5701G>C	NP_001124457.1:p.Val1901Leu
NM_001130986.1:c.5608G>C	NP_001124458.1:p.Val1870Leu
NM_001130987.1:c.5764G>C	NP_001124459.1:p.Val1922Leu
NM_003494.3:c.5647G>C	NP_003485.1:p.Val1883Leu
XM_005264584.3:c.5806G>C	XP_005264641.1:p.Val1936Leu
XM_005264585.3:c.5803G>C	XP_005264642.1:p.Val1935Leu
XM_005264584.4:c.5806G>C	XP_005264641.1:p.Val1936Leu
XM_005264585.5:c.5803G>C	XP_005264642.1:p.Val1935Leu
NM_001130987.2:c.5764G>C MANE Select	NP_001124459.1:p.Val1922Leu
NM_001130455.2:c.5650G>C	NP_001123927.1:p.Val1884Leu
NM_001130976.2:c.5605G>C	NP_001124448.1:p.Val1869Leu
NM_001130977.2:c.5668G>C	NP_001124449.1:p.Val1890Leu
NM_001130978.2:c.5710G>C	NP_001124450.1:p.Val1904Leu
NM_001130979.2:c.5740G>C	NP_001124451.1:p.Val1914Leu
NM_001130980.2:c.5698G>C	NP_001124452.1:p.Val1900Leu
NM_001130981.2:c.5761G>C	NP_001124453.1:p.Val1921Leu
NM_001130982.2:c.5743G>C	NP_001124454.1:p.Val1915Leu
NM_001130983.2:c.5713G>C	NP_001124455.1:p.Val1905Leu
NM_001130984.2:c.5671G>C	NP_001124456.1:p.Val1891Leu
NM_001130985.2:c.5701G>C	NP_001124457.1:p.Val1901Leu
NM_001130986.2:c.5608G>C	NP_001124458.1:p.Val1870Leu
NM_003494.4:c.5647G>C MANE Plus Clinical	NP_003485.1:p.Val1883Leu