Canonical Allele Identifier: CA1707552

Gene: DYSF

Linked Data

• dbSNP Id: rs753754805
• ExAC: 2:71906232 C / T
• gnomAD v2: 2-71906232-C-T
• gnomAD v3: 2-71679102-C-T
• gnomAD v4: 2-71679102-C-T
• MyVariant Identifiers: chr2:g.71906232C>T (hg19) ; chr2:g.71679102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679102C>T , CM000664.2:g.71679102C>T	GRCh38
NC_000002.11:g.71906232C>T , CM000664.1:g.71906232C>T	GRCh37
NC_000002.10:g.71759740C>T	NCBI36
NG_008694.1:g.230480C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3344C>T	ENSP00000513536.1:p.Thr1115Ile
ENST00000698058.1:c.2561C>T	ENSP00000513537.1:p.Thr854Ile
ENST00000698059.1:c.2669C>T	ENSP00000513538.1:p.Thr890Ile
ENST00000258104.8:c.5813C>T MANE Plus Clinical	ENSP00000258104.3:p.Thr1938Ile
ENST00000410020.8:c.5930C>T MANE Select	ENSP00000386881.3:p.Thr1977Ile
ENST00000258104.7:c.5813C>T	ENSP00000258104.3:p.Thr1938Ile
ENST00000394120.6:c.5816C>T	ENSP00000377678.2:p.Thr1939Ile
ENST00000409366.5:c.5879C>T	ENSP00000386512.1:p.Thr1960Ile
ENST00000409582.7:c.5927C>T	ENSP00000386547.3:p.Thr1976Ile
ENST00000409651.5:c.5909C>T	ENSP00000386683.1:p.Thr1970Ile
ENST00000409744.5:c.5837C>T	ENSP00000386285.1:p.Thr1946Ile
ENST00000409762.5:c.5864C>T	ENSP00000387137.1:p.Thr1955Ile
ENST00000410020.7:c.5930C>T	ENSP00000386881.3:p.Thr1977Ile
ENST00000410041.1:c.5867C>T	ENSP00000386617.1:p.Thr1956Ile
ENST00000413539.6:c.5906C>T	ENSP00000407046.2:p.Thr1969Ile
ENST00000429174.6:c.5876C>T	ENSP00000398305.2:p.Thr1959Ile
ENST00000479049.6:n.2698C>T
NM_001130455.1:c.5816C>T	NP_001123927.1:p.Thr1939Ile
NM_001130976.1:c.5771C>T	NP_001124448.1:p.Thr1924Ile
NM_001130977.1:c.5834C>T	NP_001124449.1:p.Thr1945Ile
NM_001130978.1:c.5876C>T	NP_001124450.1:p.Thr1959Ile
NM_001130979.1:c.5906C>T	NP_001124451.1:p.Thr1969Ile
NM_001130980.1:c.5864C>T	NP_001124452.1:p.Thr1955Ile
NM_001130981.1:c.5927C>T	NP_001124453.1:p.Thr1976Ile
NM_001130982.1:c.5909C>T	NP_001124454.1:p.Thr1970Ile
NM_001130983.1:c.5879C>T	NP_001124455.1:p.Thr1960Ile
NM_001130984.1:c.5837C>T	NP_001124456.1:p.Thr1946Ile
NM_001130985.1:c.5867C>T	NP_001124457.1:p.Thr1956Ile
NM_001130986.1:c.5774C>T	NP_001124458.1:p.Thr1925Ile
NM_001130987.1:c.5930C>T	NP_001124459.1:p.Thr1977Ile
NM_003494.3:c.5813C>T	NP_003485.1:p.Thr1938Ile
XM_005264584.3:c.5972C>T	XP_005264641.1:p.Thr1991Ile
XM_005264585.3:c.5969C>T	XP_005264642.1:p.Thr1990Ile
XM_005264584.4:c.5972C>T	XP_005264641.1:p.Thr1991Ile
XM_005264585.5:c.5969C>T	XP_005264642.1:p.Thr1990Ile
NM_001130987.2:c.5930C>T MANE Select	NP_001124459.1:p.Thr1977Ile
NM_001130455.2:c.5816C>T	NP_001123927.1:p.Thr1939Ile
NM_001130976.2:c.5771C>T	NP_001124448.1:p.Thr1924Ile
NM_001130977.2:c.5834C>T	NP_001124449.1:p.Thr1945Ile
NM_001130978.2:c.5876C>T	NP_001124450.1:p.Thr1959Ile
NM_001130979.2:c.5906C>T	NP_001124451.1:p.Thr1969Ile
NM_001130980.2:c.5864C>T	NP_001124452.1:p.Thr1955Ile
NM_001130981.2:c.5927C>T	NP_001124453.1:p.Thr1976Ile
NM_001130982.2:c.5909C>T	NP_001124454.1:p.Thr1970Ile
NM_001130983.2:c.5879C>T	NP_001124455.1:p.Thr1960Ile
NM_001130984.2:c.5837C>T	NP_001124456.1:p.Thr1946Ile
NM_001130985.2:c.5867C>T	NP_001124457.1:p.Thr1956Ile
NM_001130986.2:c.5774C>T	NP_001124458.1:p.Thr1925Ile
NM_003494.4:c.5813C>T MANE Plus Clinical	NP_003485.1:p.Thr1938Ile