Canonical Allele Identifier: CA347223053

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896317G>C (hg19) ; chr2:g.71669187G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669187G>C , CM000664.2:g.71669187G>C	GRCh38
NC_000002.11:g.71896317G>C , CM000664.1:g.71896317G>C	GRCh37
NC_000002.10:g.71749825G>C	NCBI36
NG_008694.1:g.220565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3036G>C	ENSP00000513536.1:p.Met1012Ile
ENST00000698058.1:c.2253G>C	ENSP00000513537.1:p.Met751Ile
ENST00000698059.1:c.2361G>C	ENSP00000513538.1:p.Met787Ile
ENST00000258104.8:c.5505G>C MANE Plus Clinical	ENSP00000258104.3:p.Met1835Ile
ENST00000410020.8:c.5622G>C MANE Select	ENSP00000386881.3:p.Met1874Ile
ENST00000258104.7:c.5505G>C	ENSP00000258104.3:p.Met1835Ile
ENST00000394120.6:c.5508G>C	ENSP00000377678.2:p.Met1836Ile
ENST00000409366.5:c.5571G>C	ENSP00000386512.1:p.Met1857Ile
ENST00000409582.7:c.5619G>C	ENSP00000386547.3:p.Met1873Ile
ENST00000409651.5:c.5601G>C	ENSP00000386683.1:p.Met1867Ile
ENST00000409744.5:c.5529G>C	ENSP00000386285.1:p.Met1843Ile
ENST00000409762.5:c.5556G>C	ENSP00000387137.1:p.Met1852Ile
ENST00000410020.7:c.5622G>C	ENSP00000386881.3:p.Met1874Ile
ENST00000410041.1:c.5559G>C	ENSP00000386617.1:p.Met1853Ile
ENST00000413539.6:c.5598G>C	ENSP00000407046.2:p.Met1866Ile
ENST00000429174.6:c.5568G>C	ENSP00000398305.2:p.Met1856Ile
ENST00000479049.6:n.2390G>C
NM_001130455.1:c.5508G>C	NP_001123927.1:p.Met1836Ile
NM_001130976.1:c.5463G>C	NP_001124448.1:p.Met1821Ile
NM_001130977.1:c.5526G>C	NP_001124449.1:p.Met1842Ile
NM_001130978.1:c.5568G>C	NP_001124450.1:p.Met1856Ile
NM_001130979.1:c.5598G>C	NP_001124451.1:p.Met1866Ile
NM_001130980.1:c.5556G>C	NP_001124452.1:p.Met1852Ile
NM_001130981.1:c.5619G>C	NP_001124453.1:p.Met1873Ile
NM_001130982.1:c.5601G>C	NP_001124454.1:p.Met1867Ile
NM_001130983.1:c.5571G>C	NP_001124455.1:p.Met1857Ile
NM_001130984.1:c.5529G>C	NP_001124456.1:p.Met1843Ile
NM_001130985.1:c.5559G>C	NP_001124457.1:p.Met1853Ile
NM_001130986.1:c.5466G>C	NP_001124458.1:p.Met1822Ile
NM_001130987.1:c.5622G>C	NP_001124459.1:p.Met1874Ile
NM_003494.3:c.5505G>C	NP_003485.1:p.Met1835Ile
XM_005264584.3:c.5664G>C	XP_005264641.1:p.Met1888Ile
XM_005264585.3:c.5661G>C	XP_005264642.1:p.Met1887Ile
XM_005264584.4:c.5664G>C	XP_005264641.1:p.Met1888Ile
XM_005264585.5:c.5661G>C	XP_005264642.1:p.Met1887Ile
NM_001130987.2:c.5622G>C MANE Select	NP_001124459.1:p.Met1874Ile
NM_001130455.2:c.5508G>C	NP_001123927.1:p.Met1836Ile
NM_001130976.2:c.5463G>C	NP_001124448.1:p.Met1821Ile
NM_001130977.2:c.5526G>C	NP_001124449.1:p.Met1842Ile
NM_001130978.2:c.5568G>C	NP_001124450.1:p.Met1856Ile
NM_001130979.2:c.5598G>C	NP_001124451.1:p.Met1866Ile
NM_001130980.2:c.5556G>C	NP_001124452.1:p.Met1852Ile
NM_001130981.2:c.5619G>C	NP_001124453.1:p.Met1873Ile
NM_001130982.2:c.5601G>C	NP_001124454.1:p.Met1867Ile
NM_001130983.2:c.5571G>C	NP_001124455.1:p.Met1857Ile
NM_001130984.2:c.5529G>C	NP_001124456.1:p.Met1843Ile
NM_001130985.2:c.5559G>C	NP_001124457.1:p.Met1853Ile
NM_001130986.2:c.5466G>C	NP_001124458.1:p.Met1822Ile
NM_003494.4:c.5505G>C MANE Plus Clinical	NP_003485.1:p.Met1835Ile