Canonical Allele Identifier: CA347224096

Gene: DYSF

Linked Data

• gnomAD v4: 2-71669726-G-A
• MyVariant Identifiers: chr2:g.71896856G>A (hg19) ; chr2:g.71669726G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3178G>A	ENSP00000513536.1:p.Val1060Ile
ENST00000698058.1:c.2395G>A	ENSP00000513537.1:p.Val799Ile
ENST00000698059.1:c.2503G>A	ENSP00000513538.1:p.Val835Ile
ENST00000258104.8:c.5647G>A MANE Plus Clinical	ENSP00000258104.3:p.Val1883Ile
ENST00000410020.8:c.5764G>A MANE Select	ENSP00000386881.3:p.Val1922Ile
ENST00000258104.7:c.5647G>A	ENSP00000258104.3:p.Val1883Ile
ENST00000394120.6:c.5650G>A	ENSP00000377678.2:p.Val1884Ile
ENST00000409366.5:c.5713G>A	ENSP00000386512.1:p.Val1905Ile
ENST00000409582.7:c.5761G>A	ENSP00000386547.3:p.Val1921Ile
ENST00000409651.5:c.5743G>A	ENSP00000386683.1:p.Val1915Ile
ENST00000409744.5:c.5671G>A	ENSP00000386285.1:p.Val1891Ile
ENST00000409762.5:c.5698G>A	ENSP00000387137.1:p.Val1900Ile
ENST00000410020.7:c.5764G>A	ENSP00000386881.3:p.Val1922Ile
ENST00000410041.1:c.5701G>A	ENSP00000386617.1:p.Val1901Ile
ENST00000413539.6:c.5740G>A	ENSP00000407046.2:p.Val1914Ile
ENST00000429174.6:c.5710G>A	ENSP00000398305.2:p.Val1904Ile
ENST00000479049.6:n.2532G>A
NM_001130455.1:c.5650G>A	NP_001123927.1:p.Val1884Ile
NM_001130976.1:c.5605G>A	NP_001124448.1:p.Val1869Ile
NM_001130977.1:c.5668G>A	NP_001124449.1:p.Val1890Ile
NM_001130978.1:c.5710G>A	NP_001124450.1:p.Val1904Ile
NM_001130979.1:c.5740G>A	NP_001124451.1:p.Val1914Ile
NM_001130980.1:c.5698G>A	NP_001124452.1:p.Val1900Ile
NM_001130981.1:c.5761G>A	NP_001124453.1:p.Val1921Ile
NM_001130982.1:c.5743G>A	NP_001124454.1:p.Val1915Ile
NM_001130983.1:c.5713G>A	NP_001124455.1:p.Val1905Ile
NM_001130984.1:c.5671G>A	NP_001124456.1:p.Val1891Ile
NM_001130985.1:c.5701G>A	NP_001124457.1:p.Val1901Ile
NM_001130986.1:c.5608G>A	NP_001124458.1:p.Val1870Ile
NM_001130987.1:c.5764G>A	NP_001124459.1:p.Val1922Ile
NM_003494.3:c.5647G>A	NP_003485.1:p.Val1883Ile
XM_005264584.3:c.5806G>A	XP_005264641.1:p.Val1936Ile
XM_005264585.3:c.5803G>A	XP_005264642.1:p.Val1935Ile
XM_005264584.4:c.5806G>A	XP_005264641.1:p.Val1936Ile
XM_005264585.5:c.5803G>A	XP_005264642.1:p.Val1935Ile
NM_001130987.2:c.5764G>A MANE Select	NP_001124459.1:p.Val1922Ile
NM_001130455.2:c.5650G>A	NP_001123927.1:p.Val1884Ile
NM_001130976.2:c.5605G>A	NP_001124448.1:p.Val1869Ile
NM_001130977.2:c.5668G>A	NP_001124449.1:p.Val1890Ile
NM_001130978.2:c.5710G>A	NP_001124450.1:p.Val1904Ile
NM_001130979.2:c.5740G>A	NP_001124451.1:p.Val1914Ile
NM_001130980.2:c.5698G>A	NP_001124452.1:p.Val1900Ile
NM_001130981.2:c.5761G>A	NP_001124453.1:p.Val1921Ile
NM_001130982.2:c.5743G>A	NP_001124454.1:p.Val1915Ile
NM_001130983.2:c.5713G>A	NP_001124455.1:p.Val1905Ile
NM_001130984.2:c.5671G>A	NP_001124456.1:p.Val1891Ile
NM_001130985.2:c.5701G>A	NP_001124457.1:p.Val1901Ile
NM_001130986.2:c.5608G>A	NP_001124458.1:p.Val1870Ile
NM_003494.4:c.5647G>A MANE Plus Clinical	NP_003485.1:p.Val1883Ile