Canonical Allele Identifier: CA347227876

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71913598G>T (hg19) ; chr2:g.71686468G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686468G>T , CM000664.2:g.71686468G>T	GRCh38
NC_000002.11:g.71913598G>T , CM000664.1:g.71913598G>T	GRCh37
NC_000002.10:g.71767106G>T	NCBI36
NG_008694.1:g.237846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3750G>T	ENSP00000513536.1:p.Met1250Ile
ENST00000698058.1:c.2967G>T	ENSP00000513537.1:p.Met989Ile
ENST00000698059.1:c.3075G>T	ENSP00000513538.1:p.Met1025Ile
ENST00000258104.8:c.6219G>T MANE Plus Clinical	ENSP00000258104.3:p.Met2073Ile
ENST00000410020.8:c.6336G>T MANE Select	ENSP00000386881.3:p.Met2112Ile
ENST00000258104.7:c.6219G>T	ENSP00000258104.3:p.Met2073Ile
ENST00000394120.6:c.6222G>T	ENSP00000377678.2:p.Met2074Ile
ENST00000409366.5:c.6285G>T	ENSP00000386512.1:p.Met2095Ile
ENST00000409582.7:c.6333G>T	ENSP00000386547.3:p.Met2111Ile
ENST00000409651.5:c.6315G>T	ENSP00000386683.1:p.Met2105Ile
ENST00000409744.5:c.6243G>T	ENSP00000386285.1:p.Met2081Ile
ENST00000409762.5:c.6270G>T	ENSP00000387137.1:p.Met2090Ile
ENST00000410020.7:c.6336G>T	ENSP00000386881.3:p.Met2112Ile
ENST00000410041.1:c.6273G>T	ENSP00000386617.1:p.Met2091Ile
ENST00000413539.6:c.6312G>T	ENSP00000407046.2:p.Met2104Ile
ENST00000429174.6:c.6282G>T	ENSP00000398305.2:p.Met2094Ile
ENST00000479049.6:n.3104G>T
NM_001130455.1:c.6222G>T	NP_001123927.1:p.Met2074Ile
NM_001130976.1:c.6177G>T	NP_001124448.1:p.Met2059Ile
NM_001130977.1:c.6240G>T	NP_001124449.1:p.Met2080Ile
NM_001130978.1:c.6282G>T	NP_001124450.1:p.Met2094Ile
NM_001130979.1:c.6312G>T	NP_001124451.1:p.Met2104Ile
NM_001130980.1:c.6270G>T	NP_001124452.1:p.Met2090Ile
NM_001130981.1:c.6333G>T	NP_001124453.1:p.Met2111Ile
NM_001130982.1:c.6315G>T	NP_001124454.1:p.Met2105Ile
NM_001130983.1:c.6285G>T	NP_001124455.1:p.Met2095Ile
NM_001130984.1:c.6243G>T	NP_001124456.1:p.Met2081Ile
NM_001130985.1:c.6273G>T	NP_001124457.1:p.Met2091Ile
NM_001130986.1:c.6180G>T	NP_001124458.1:p.Met2060Ile
NM_001130987.1:c.6336G>T	NP_001124459.1:p.Met2112Ile
NM_003494.3:c.6219G>T	NP_003485.1:p.Met2073Ile
XM_005264584.3:c.6378G>T	XP_005264641.1:p.Met2126Ile
XM_005264585.3:c.6375G>T	XP_005264642.1:p.Met2125Ile
XM_005264584.4:c.6378G>T	XP_005264641.1:p.Met2126Ile
XM_005264585.5:c.6375G>T	XP_005264642.1:p.Met2125Ile
NM_001130987.2:c.6336G>T MANE Select	NP_001124459.1:p.Met2112Ile
NM_001130455.2:c.6222G>T	NP_001123927.1:p.Met2074Ile
NM_001130976.2:c.6177G>T	NP_001124448.1:p.Met2059Ile
NM_001130977.2:c.6240G>T	NP_001124449.1:p.Met2080Ile
NM_001130978.2:c.6282G>T	NP_001124450.1:p.Met2094Ile
NM_001130979.2:c.6312G>T	NP_001124451.1:p.Met2104Ile
NM_001130980.2:c.6270G>T	NP_001124452.1:p.Met2090Ile
NM_001130981.2:c.6333G>T	NP_001124453.1:p.Met2111Ile
NM_001130982.2:c.6315G>T	NP_001124454.1:p.Met2105Ile
NM_001130983.2:c.6285G>T	NP_001124455.1:p.Met2095Ile
NM_001130984.2:c.6243G>T	NP_001124456.1:p.Met2081Ile
NM_001130985.2:c.6273G>T	NP_001124457.1:p.Met2091Ile
NM_001130986.2:c.6180G>T	NP_001124458.1:p.Met2060Ile
NM_003494.4:c.6219G>T MANE Plus Clinical	NP_003485.1:p.Met2073Ile