Canonical Allele Identifier: CA1705982

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1504301
• ClinVar RCV Id: RCV002047764 ; RCV003146477
• dbSNP Id: rs773859302
• ExAC: 2:71780264 A / G
• gnomAD v2: 2-71780264-A-G
• gnomAD v4: 2-71553134-A-G
• MyVariant Identifiers: chr2:g.71780264A>G (hg19) ; chr2:g.71553134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71553134A>G , CM000664.2:g.71553134A>G	GRCh38
NC_000002.11:g.71780264A>G , CM000664.1:g.71780264A>G	GRCh37
NC_000002.10:g.71633772A>G	NCBI36
NG_008694.1:g.104512A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.1876A>G MANE Plus Clinical	ENSP00000258104.3:p.Met626Val
ENST00000410020.8:c.1930A>G MANE Select	ENSP00000386881.3:p.Met644Val
ENST00000258104.7:c.1876A>G	ENSP00000258104.3:p.Met626Val
ENST00000394120.6:c.1879A>G	ENSP00000377678.2:p.Met627Val
ENST00000409366.5:c.1879A>G	ENSP00000386512.1:p.Met627Val
ENST00000409582.7:c.1927A>G	ENSP00000386547.3:p.Met643Val
ENST00000409651.5:c.1972A>G	ENSP00000386683.1:p.Met658Val
ENST00000409744.5:c.1837A>G	ENSP00000386285.1:p.Met613Val
ENST00000409762.5:c.1927A>G	ENSP00000387137.1:p.Met643Val
ENST00000410020.7:c.1930A>G	ENSP00000386881.3:p.Met644Val
ENST00000410041.1:c.1930A>G	ENSP00000386617.1:p.Met644Val
ENST00000413539.6:c.1969A>G	ENSP00000407046.2:p.Met657Val
ENST00000429174.6:c.1876A>G	ENSP00000398305.2:p.Met626Val
NM_001130455.1:c.1879A>G	NP_001123927.1:p.Met627Val
NM_001130976.1:c.1834A>G	NP_001124448.1:p.Met612Val
NM_001130977.1:c.1834A>G	NP_001124449.1:p.Met612Val
NM_001130978.1:c.1876A>G	NP_001124450.1:p.Met626Val
NM_001130979.1:c.1969A>G	NP_001124451.1:p.Met657Val
NM_001130980.1:c.1927A>G	NP_001124452.1:p.Met643Val
NM_001130981.1:c.1927A>G	NP_001124453.1:p.Met643Val
NM_001130982.1:c.1972A>G	NP_001124454.1:p.Met658Val
NM_001130983.1:c.1879A>G	NP_001124455.1:p.Met627Val
NM_001130984.1:c.1837A>G	NP_001124456.1:p.Met613Val
NM_001130985.1:c.1930A>G	NP_001124457.1:p.Met644Val
NM_001130986.1:c.1837A>G	NP_001124458.1:p.Met613Val
NM_001130987.1:c.1930A>G	NP_001124459.1:p.Met644Val
NM_003494.3:c.1876A>G	NP_003485.1:p.Met626Val
XM_005264584.3:c.1972A>G	XP_005264641.1:p.Met658Val
XM_005264585.3:c.1969A>G	XP_005264642.1:p.Met657Val
XM_005264584.4:c.1972A>G	XP_005264641.1:p.Met658Val
XM_005264585.5:c.1969A>G	XP_005264642.1:p.Met657Val
XR_001738969.1:n.2130A>G
NM_001130987.2:c.1930A>G MANE Select	NP_001124459.1:p.Met644Val
NM_001130455.2:c.1879A>G	NP_001123927.1:p.Met627Val
NM_001130976.2:c.1834A>G	NP_001124448.1:p.Met612Val
NM_001130977.2:c.1834A>G	NP_001124449.1:p.Met612Val
NM_001130978.2:c.1876A>G	NP_001124450.1:p.Met626Val
NM_001130979.2:c.1969A>G	NP_001124451.1:p.Met657Val
NM_001130980.2:c.1927A>G	NP_001124452.1:p.Met643Val
NM_001130981.2:c.1927A>G	NP_001124453.1:p.Met643Val
NM_001130982.2:c.1972A>G	NP_001124454.1:p.Met658Val
NM_001130983.2:c.1879A>G	NP_001124455.1:p.Met627Val
NM_001130984.2:c.1837A>G	NP_001124456.1:p.Met613Val
NM_001130985.2:c.1930A>G	NP_001124457.1:p.Met644Val
NM_001130986.2:c.1837A>G	NP_001124458.1:p.Met613Val
NM_003494.4:c.1876A>G MANE Plus Clinical	NP_003485.1:p.Met626Val