Canonical Allele Identifier: CA347226546

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71906336G>A (hg19) ; chr2:g.71679206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679206G>A , CM000664.2:g.71679206G>A	GRCh38
NC_000002.11:g.71906336G>A , CM000664.1:g.71906336G>A	GRCh37
NC_000002.10:g.71759844G>A	NCBI36
NG_008694.1:g.230584G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3448G>A	ENSP00000513536.1:p.Ala1150Thr
ENST00000698058.1:c.2665G>A	ENSP00000513537.1:p.Ala889Thr
ENST00000698059.1:c.2773G>A	ENSP00000513538.1:p.Ala925Thr
ENST00000258104.8:c.5917G>A MANE Plus Clinical	ENSP00000258104.3:p.Ala1973Thr
ENST00000410020.8:c.6034G>A MANE Select	ENSP00000386881.3:p.Ala2012Thr
ENST00000258104.7:c.5917G>A	ENSP00000258104.3:p.Ala1973Thr
ENST00000394120.6:c.5920G>A	ENSP00000377678.2:p.Ala1974Thr
ENST00000409366.5:c.5983G>A	ENSP00000386512.1:p.Ala1995Thr
ENST00000409582.7:c.6031G>A	ENSP00000386547.3:p.Ala2011Thr
ENST00000409651.5:c.6013G>A	ENSP00000386683.1:p.Ala2005Thr
ENST00000409744.5:c.5941G>A	ENSP00000386285.1:p.Ala1981Thr
ENST00000409762.5:c.5968G>A	ENSP00000387137.1:p.Ala1990Thr
ENST00000410020.7:c.6034G>A	ENSP00000386881.3:p.Ala2012Thr
ENST00000410041.1:c.5971G>A	ENSP00000386617.1:p.Ala1991Thr
ENST00000413539.6:c.6010G>A	ENSP00000407046.2:p.Ala2004Thr
ENST00000429174.6:c.5980G>A	ENSP00000398305.2:p.Ala1994Thr
ENST00000479049.6:n.2802G>A
NM_001130455.1:c.5920G>A	NP_001123927.1:p.Ala1974Thr
NM_001130976.1:c.5875G>A	NP_001124448.1:p.Ala1959Thr
NM_001130977.1:c.5938G>A	NP_001124449.1:p.Ala1980Thr
NM_001130978.1:c.5980G>A	NP_001124450.1:p.Ala1994Thr
NM_001130979.1:c.6010G>A	NP_001124451.1:p.Ala2004Thr
NM_001130980.1:c.5968G>A	NP_001124452.1:p.Ala1990Thr
NM_001130981.1:c.6031G>A	NP_001124453.1:p.Ala2011Thr
NM_001130982.1:c.6013G>A	NP_001124454.1:p.Ala2005Thr
NM_001130983.1:c.5983G>A	NP_001124455.1:p.Ala1995Thr
NM_001130984.1:c.5941G>A	NP_001124456.1:p.Ala1981Thr
NM_001130985.1:c.5971G>A	NP_001124457.1:p.Ala1991Thr
NM_001130986.1:c.5878G>A	NP_001124458.1:p.Ala1960Thr
NM_001130987.1:c.6034G>A	NP_001124459.1:p.Ala2012Thr
NM_003494.3:c.5917G>A	NP_003485.1:p.Ala1973Thr
XM_005264584.3:c.6076G>A	XP_005264641.1:p.Ala2026Thr
XM_005264585.3:c.6073G>A	XP_005264642.1:p.Ala2025Thr
XM_005264584.4:c.6076G>A	XP_005264641.1:p.Ala2026Thr
XM_005264585.5:c.6073G>A	XP_005264642.1:p.Ala2025Thr
NM_001130987.2:c.6034G>A MANE Select	NP_001124459.1:p.Ala2012Thr
NM_001130455.2:c.5920G>A	NP_001123927.1:p.Ala1974Thr
NM_001130976.2:c.5875G>A	NP_001124448.1:p.Ala1959Thr
NM_001130977.2:c.5938G>A	NP_001124449.1:p.Ala1980Thr
NM_001130978.2:c.5980G>A	NP_001124450.1:p.Ala1994Thr
NM_001130979.2:c.6010G>A	NP_001124451.1:p.Ala2004Thr
NM_001130980.2:c.5968G>A	NP_001124452.1:p.Ala1990Thr
NM_001130981.2:c.6031G>A	NP_001124453.1:p.Ala2011Thr
NM_001130982.2:c.6013G>A	NP_001124454.1:p.Ala2005Thr
NM_001130983.2:c.5983G>A	NP_001124455.1:p.Ala1995Thr
NM_001130984.2:c.5941G>A	NP_001124456.1:p.Ala1981Thr
NM_001130985.2:c.5971G>A	NP_001124457.1:p.Ala1991Thr
NM_001130986.2:c.5878G>A	NP_001124458.1:p.Ala1960Thr
NM_003494.4:c.5917G>A MANE Plus Clinical	NP_003485.1:p.Ala1973Thr