Canonical Allele Identifier: CA347224144

Gene: DYSF

Linked Data

• ClinVar Variation Id: 898768
• ClinVar RCV Id: RCV001142848
• dbSNP Id: rs2095085566
• gnomAD v4: 2-71669733-C-T
• MyVariant Identifiers: chr2:g.71896863C>T (hg19) ; chr2:g.71669733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669733C>T , CM000664.2:g.71669733C>T	GRCh38
NC_000002.11:g.71896863C>T , CM000664.1:g.71896863C>T	GRCh37
NC_000002.10:g.71750371C>T	NCBI36
NG_008694.1:g.221111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3185C>T	ENSP00000513536.1:p.Thr1062Ile
ENST00000698058.1:c.2402C>T	ENSP00000513537.1:p.Thr801Ile
ENST00000698059.1:c.2510C>T	ENSP00000513538.1:p.Thr837Ile
ENST00000258104.8:c.5654C>T MANE Plus Clinical	ENSP00000258104.3:p.Thr1885Ile
ENST00000410020.8:c.5771C>T MANE Select	ENSP00000386881.3:p.Thr1924Ile
ENST00000258104.7:c.5654C>T	ENSP00000258104.3:p.Thr1885Ile
ENST00000394120.6:c.5657C>T	ENSP00000377678.2:p.Thr1886Ile
ENST00000409366.5:c.5720C>T	ENSP00000386512.1:p.Thr1907Ile
ENST00000409582.7:c.5768C>T	ENSP00000386547.3:p.Thr1923Ile
ENST00000409651.5:c.5750C>T	ENSP00000386683.1:p.Thr1917Ile
ENST00000409744.5:c.5678C>T	ENSP00000386285.1:p.Thr1893Ile
ENST00000409762.5:c.5705C>T	ENSP00000387137.1:p.Thr1902Ile
ENST00000410020.7:c.5771C>T	ENSP00000386881.3:p.Thr1924Ile
ENST00000410041.1:c.5708C>T	ENSP00000386617.1:p.Thr1903Ile
ENST00000413539.6:c.5747C>T	ENSP00000407046.2:p.Thr1916Ile
ENST00000429174.6:c.5717C>T	ENSP00000398305.2:p.Thr1906Ile
ENST00000479049.6:n.2539C>T
NM_001130455.1:c.5657C>T	NP_001123927.1:p.Thr1886Ile
NM_001130976.1:c.5612C>T	NP_001124448.1:p.Thr1871Ile
NM_001130977.1:c.5675C>T	NP_001124449.1:p.Thr1892Ile
NM_001130978.1:c.5717C>T	NP_001124450.1:p.Thr1906Ile
NM_001130979.1:c.5747C>T	NP_001124451.1:p.Thr1916Ile
NM_001130980.1:c.5705C>T	NP_001124452.1:p.Thr1902Ile
NM_001130981.1:c.5768C>T	NP_001124453.1:p.Thr1923Ile
NM_001130982.1:c.5750C>T	NP_001124454.1:p.Thr1917Ile
NM_001130983.1:c.5720C>T	NP_001124455.1:p.Thr1907Ile
NM_001130984.1:c.5678C>T	NP_001124456.1:p.Thr1893Ile
NM_001130985.1:c.5708C>T	NP_001124457.1:p.Thr1903Ile
NM_001130986.1:c.5615C>T	NP_001124458.1:p.Thr1872Ile
NM_001130987.1:c.5771C>T	NP_001124459.1:p.Thr1924Ile
NM_003494.3:c.5654C>T	NP_003485.1:p.Thr1885Ile
XM_005264584.3:c.5813C>T	XP_005264641.1:p.Thr1938Ile
XM_005264585.3:c.5810C>T	XP_005264642.1:p.Thr1937Ile
XM_005264584.4:c.5813C>T	XP_005264641.1:p.Thr1938Ile
XM_005264585.5:c.5810C>T	XP_005264642.1:p.Thr1937Ile
NM_001130987.2:c.5771C>T MANE Select	NP_001124459.1:p.Thr1924Ile
NM_001130455.2:c.5657C>T	NP_001123927.1:p.Thr1886Ile
NM_001130976.2:c.5612C>T	NP_001124448.1:p.Thr1871Ile
NM_001130977.2:c.5675C>T	NP_001124449.1:p.Thr1892Ile
NM_001130978.2:c.5717C>T	NP_001124450.1:p.Thr1906Ile
NM_001130979.2:c.5747C>T	NP_001124451.1:p.Thr1916Ile
NM_001130980.2:c.5705C>T	NP_001124452.1:p.Thr1902Ile
NM_001130981.2:c.5768C>T	NP_001124453.1:p.Thr1923Ile
NM_001130982.2:c.5750C>T	NP_001124454.1:p.Thr1917Ile
NM_001130983.2:c.5720C>T	NP_001124455.1:p.Thr1907Ile
NM_001130984.2:c.5678C>T	NP_001124456.1:p.Thr1893Ile
NM_001130985.2:c.5708C>T	NP_001124457.1:p.Thr1903Ile
NM_001130986.2:c.5615C>T	NP_001124458.1:p.Thr1872Ile
NM_003494.4:c.5654C>T MANE Plus Clinical	NP_003485.1:p.Thr1885Ile