Canonical Allele Identifier: CA347226547

Gene: DYSF

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3448G>C	ENSP00000513536.1:p.Ala1150Pro
ENST00000698058.1:c.2665G>C	ENSP00000513537.1:p.Ala889Pro
ENST00000698059.1:c.2773G>C	ENSP00000513538.1:p.Ala925Pro
ENST00000258104.8:c.5917G>C MANE Plus Clinical	ENSP00000258104.3:p.Ala1973Pro
ENST00000410020.8:c.6034G>C MANE Select	ENSP00000386881.3:p.Ala2012Pro
ENST00000258104.7:c.5917G>C	ENSP00000258104.3:p.Ala1973Pro
ENST00000394120.6:c.5920G>C	ENSP00000377678.2:p.Ala1974Pro
ENST00000409366.5:c.5983G>C	ENSP00000386512.1:p.Ala1995Pro
ENST00000409582.7:c.6031G>C	ENSP00000386547.3:p.Ala2011Pro
ENST00000409651.5:c.6013G>C	ENSP00000386683.1:p.Ala2005Pro
ENST00000409744.5:c.5941G>C	ENSP00000386285.1:p.Ala1981Pro
ENST00000409762.5:c.5968G>C	ENSP00000387137.1:p.Ala1990Pro
ENST00000410020.7:c.6034G>C	ENSP00000386881.3:p.Ala2012Pro
ENST00000410041.1:c.5971G>C	ENSP00000386617.1:p.Ala1991Pro
ENST00000413539.6:c.6010G>C	ENSP00000407046.2:p.Ala2004Pro
ENST00000429174.6:c.5980G>C	ENSP00000398305.2:p.Ala1994Pro
ENST00000479049.6:n.2802G>C
NM_001130455.1:c.5920G>C	NP_001123927.1:p.Ala1974Pro
NM_001130976.1:c.5875G>C	NP_001124448.1:p.Ala1959Pro
NM_001130977.1:c.5938G>C	NP_001124449.1:p.Ala1980Pro
NM_001130978.1:c.5980G>C	NP_001124450.1:p.Ala1994Pro
NM_001130979.1:c.6010G>C	NP_001124451.1:p.Ala2004Pro
NM_001130980.1:c.5968G>C	NP_001124452.1:p.Ala1990Pro
NM_001130981.1:c.6031G>C	NP_001124453.1:p.Ala2011Pro
NM_001130982.1:c.6013G>C	NP_001124454.1:p.Ala2005Pro
NM_001130983.1:c.5983G>C	NP_001124455.1:p.Ala1995Pro
NM_001130984.1:c.5941G>C	NP_001124456.1:p.Ala1981Pro
NM_001130985.1:c.5971G>C	NP_001124457.1:p.Ala1991Pro
NM_001130986.1:c.5878G>C	NP_001124458.1:p.Ala1960Pro
NM_001130987.1:c.6034G>C	NP_001124459.1:p.Ala2012Pro
NM_003494.3:c.5917G>C	NP_003485.1:p.Ala1973Pro
XM_005264584.3:c.6076G>C	XP_005264641.1:p.Ala2026Pro
XM_005264585.3:c.6073G>C	XP_005264642.1:p.Ala2025Pro
XM_005264584.4:c.6076G>C	XP_005264641.1:p.Ala2026Pro
XM_005264585.5:c.6073G>C	XP_005264642.1:p.Ala2025Pro
NM_001130987.2:c.6034G>C MANE Select	NP_001124459.1:p.Ala2012Pro
NM_001130455.2:c.5920G>C	NP_001123927.1:p.Ala1974Pro
NM_001130976.2:c.5875G>C	NP_001124448.1:p.Ala1959Pro
NM_001130977.2:c.5938G>C	NP_001124449.1:p.Ala1980Pro
NM_001130978.2:c.5980G>C	NP_001124450.1:p.Ala1994Pro
NM_001130979.2:c.6010G>C	NP_001124451.1:p.Ala2004Pro
NM_001130980.2:c.5968G>C	NP_001124452.1:p.Ala1990Pro
NM_001130981.2:c.6031G>C	NP_001124453.1:p.Ala2011Pro
NM_001130982.2:c.6013G>C	NP_001124454.1:p.Ala2005Pro
NM_001130983.2:c.5983G>C	NP_001124455.1:p.Ala1995Pro
NM_001130984.2:c.5941G>C	NP_001124456.1:p.Ala1981Pro
NM_001130985.2:c.5971G>C	NP_001124457.1:p.Ala1991Pro
NM_001130986.2:c.5878G>C	NP_001124458.1:p.Ala1960Pro
NM_003494.4:c.5917G>C MANE Plus Clinical	NP_003485.1:p.Ala1973Pro