Canonical Allele Identifier: CA347222770

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896271C>A (hg19) ; chr2:g.71669141C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669141C>A , CM000664.2:g.71669141C>A	GRCh38
NC_000002.11:g.71896271C>A , CM000664.1:g.71896271C>A	GRCh37
NC_000002.10:g.71749779C>A	NCBI36
NG_008694.1:g.220519C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2990C>A	ENSP00000513536.1:p.Thr997Asn
ENST00000698058.1:c.2207C>A	ENSP00000513537.1:p.Thr736Asn
ENST00000698059.1:c.2315C>A	ENSP00000513538.1:p.Thr772Asn
ENST00000258104.8:c.5459C>A MANE Plus Clinical	ENSP00000258104.3:p.Thr1820Asn
ENST00000410020.8:c.5576C>A MANE Select	ENSP00000386881.3:p.Thr1859Asn
ENST00000258104.7:c.5459C>A	ENSP00000258104.3:p.Thr1820Asn
ENST00000394120.6:c.5462C>A	ENSP00000377678.2:p.Thr1821Asn
ENST00000409366.5:c.5525C>A	ENSP00000386512.1:p.Thr1842Asn
ENST00000409582.7:c.5573C>A	ENSP00000386547.3:p.Thr1858Asn
ENST00000409651.5:c.5555C>A	ENSP00000386683.1:p.Thr1852Asn
ENST00000409744.5:c.5483C>A	ENSP00000386285.1:p.Thr1828Asn
ENST00000409762.5:c.5510C>A	ENSP00000387137.1:p.Thr1837Asn
ENST00000410020.7:c.5576C>A	ENSP00000386881.3:p.Thr1859Asn
ENST00000410041.1:c.5513C>A	ENSP00000386617.1:p.Thr1838Asn
ENST00000413539.6:c.5552C>A	ENSP00000407046.2:p.Thr1851Asn
ENST00000429174.6:c.5522C>A	ENSP00000398305.2:p.Thr1841Asn
ENST00000479049.6:n.2344C>A
NM_001130455.1:c.5462C>A	NP_001123927.1:p.Thr1821Asn
NM_001130976.1:c.5417C>A	NP_001124448.1:p.Thr1806Asn
NM_001130977.1:c.5480C>A	NP_001124449.1:p.Thr1827Asn
NM_001130978.1:c.5522C>A	NP_001124450.1:p.Thr1841Asn
NM_001130979.1:c.5552C>A	NP_001124451.1:p.Thr1851Asn
NM_001130980.1:c.5510C>A	NP_001124452.1:p.Thr1837Asn
NM_001130981.1:c.5573C>A	NP_001124453.1:p.Thr1858Asn
NM_001130982.1:c.5555C>A	NP_001124454.1:p.Thr1852Asn
NM_001130983.1:c.5525C>A	NP_001124455.1:p.Thr1842Asn
NM_001130984.1:c.5483C>A	NP_001124456.1:p.Thr1828Asn
NM_001130985.1:c.5513C>A	NP_001124457.1:p.Thr1838Asn
NM_001130986.1:c.5420C>A	NP_001124458.1:p.Thr1807Asn
NM_001130987.1:c.5576C>A	NP_001124459.1:p.Thr1859Asn
NM_003494.3:c.5459C>A	NP_003485.1:p.Thr1820Asn
XM_005264584.3:c.5618C>A	XP_005264641.1:p.Thr1873Asn
XM_005264585.3:c.5615C>A	XP_005264642.1:p.Thr1872Asn
XM_005264584.4:c.5618C>A	XP_005264641.1:p.Thr1873Asn
XM_005264585.5:c.5615C>A	XP_005264642.1:p.Thr1872Asn
NM_001130987.2:c.5576C>A MANE Select	NP_001124459.1:p.Thr1859Asn
NM_001130455.2:c.5462C>A	NP_001123927.1:p.Thr1821Asn
NM_001130976.2:c.5417C>A	NP_001124448.1:p.Thr1806Asn
NM_001130977.2:c.5480C>A	NP_001124449.1:p.Thr1827Asn
NM_001130978.2:c.5522C>A	NP_001124450.1:p.Thr1841Asn
NM_001130979.2:c.5552C>A	NP_001124451.1:p.Thr1851Asn
NM_001130980.2:c.5510C>A	NP_001124452.1:p.Thr1837Asn
NM_001130981.2:c.5573C>A	NP_001124453.1:p.Thr1858Asn
NM_001130982.2:c.5555C>A	NP_001124454.1:p.Thr1852Asn
NM_001130983.2:c.5525C>A	NP_001124455.1:p.Thr1842Asn
NM_001130984.2:c.5483C>A	NP_001124456.1:p.Thr1828Asn
NM_001130985.2:c.5513C>A	NP_001124457.1:p.Thr1838Asn
NM_001130986.2:c.5420C>A	NP_001124458.1:p.Thr1807Asn
NM_003494.4:c.5459C>A MANE Plus Clinical	NP_003485.1:p.Thr1820Asn