Canonical Allele Identifier: CA347223508

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71896762G>C (hg19) ; chr2:g.71669632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669632G>C , CM000664.2:g.71669632G>C	GRCh38
NC_000002.11:g.71896762G>C , CM000664.1:g.71896762G>C	GRCh37
NC_000002.10:g.71750270G>C	NCBI36
NG_008694.1:g.221010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3084G>C	ENSP00000513536.1:p.Lys1028Asn
ENST00000698058.1:c.2301G>C	ENSP00000513537.1:p.Lys767Asn
ENST00000698059.1:c.2409G>C	ENSP00000513538.1:p.Lys803Asn
ENST00000258104.8:c.5553G>C MANE Plus Clinical	ENSP00000258104.3:p.Lys1851Asn
ENST00000410020.8:c.5670G>C MANE Select	ENSP00000386881.3:p.Lys1890Asn
ENST00000258104.7:c.5553G>C	ENSP00000258104.3:p.Lys1851Asn
ENST00000394120.6:c.5556G>C	ENSP00000377678.2:p.Lys1852Asn
ENST00000409366.5:c.5619G>C	ENSP00000386512.1:p.Lys1873Asn
ENST00000409582.7:c.5667G>C	ENSP00000386547.3:p.Lys1889Asn
ENST00000409651.5:c.5649G>C	ENSP00000386683.1:p.Lys1883Asn
ENST00000409744.5:c.5577G>C	ENSP00000386285.1:p.Lys1859Asn
ENST00000409762.5:c.5604G>C	ENSP00000387137.1:p.Lys1868Asn
ENST00000410020.7:c.5670G>C	ENSP00000386881.3:p.Lys1890Asn
ENST00000410041.1:c.5607G>C	ENSP00000386617.1:p.Lys1869Asn
ENST00000413539.6:c.5646G>C	ENSP00000407046.2:p.Lys1882Asn
ENST00000429174.6:c.5616G>C	ENSP00000398305.2:p.Lys1872Asn
ENST00000479049.6:n.2438G>C
NM_001130455.1:c.5556G>C	NP_001123927.1:p.Lys1852Asn
NM_001130976.1:c.5511G>C	NP_001124448.1:p.Lys1837Asn
NM_001130977.1:c.5574G>C	NP_001124449.1:p.Lys1858Asn
NM_001130978.1:c.5616G>C	NP_001124450.1:p.Lys1872Asn
NM_001130979.1:c.5646G>C	NP_001124451.1:p.Lys1882Asn
NM_001130980.1:c.5604G>C	NP_001124452.1:p.Lys1868Asn
NM_001130981.1:c.5667G>C	NP_001124453.1:p.Lys1889Asn
NM_001130982.1:c.5649G>C	NP_001124454.1:p.Lys1883Asn
NM_001130983.1:c.5619G>C	NP_001124455.1:p.Lys1873Asn
NM_001130984.1:c.5577G>C	NP_001124456.1:p.Lys1859Asn
NM_001130985.1:c.5607G>C	NP_001124457.1:p.Lys1869Asn
NM_001130986.1:c.5514G>C	NP_001124458.1:p.Lys1838Asn
NM_001130987.1:c.5670G>C	NP_001124459.1:p.Lys1890Asn
NM_003494.3:c.5553G>C	NP_003485.1:p.Lys1851Asn
XM_005264584.3:c.5712G>C	XP_005264641.1:p.Lys1904Asn
XM_005264585.3:c.5709G>C	XP_005264642.1:p.Lys1903Asn
XM_005264584.4:c.5712G>C	XP_005264641.1:p.Lys1904Asn
XM_005264585.5:c.5709G>C	XP_005264642.1:p.Lys1903Asn
NM_001130987.2:c.5670G>C MANE Select	NP_001124459.1:p.Lys1890Asn
NM_001130455.2:c.5556G>C	NP_001123927.1:p.Lys1852Asn
NM_001130976.2:c.5511G>C	NP_001124448.1:p.Lys1837Asn
NM_001130977.2:c.5574G>C	NP_001124449.1:p.Lys1858Asn
NM_001130978.2:c.5616G>C	NP_001124450.1:p.Lys1872Asn
NM_001130979.2:c.5646G>C	NP_001124451.1:p.Lys1882Asn
NM_001130980.2:c.5604G>C	NP_001124452.1:p.Lys1868Asn
NM_001130981.2:c.5667G>C	NP_001124453.1:p.Lys1889Asn
NM_001130982.2:c.5649G>C	NP_001124454.1:p.Lys1883Asn
NM_001130983.2:c.5619G>C	NP_001124455.1:p.Lys1873Asn
NM_001130984.2:c.5577G>C	NP_001124456.1:p.Lys1859Asn
NM_001130985.2:c.5607G>C	NP_001124457.1:p.Lys1869Asn
NM_001130986.2:c.5514G>C	NP_001124458.1:p.Lys1838Asn
NM_003494.4:c.5553G>C MANE Plus Clinical	NP_003485.1:p.Lys1851Asn