Canonical Allele Identifier: CA347217857

Gene: DYSF

Linked Data

• dbSNP Id: rs1429590215
• gnomAD v2: 2-71871119-A-G
• gnomAD v4: 2-71643989-A-G
• MyVariant Identifiers: chr2:g.71871119A>G (hg19) ; chr2:g.71643989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71643989A>G , CM000664.2:g.71643989A>G	GRCh38
NC_000002.11:g.71871119A>G , CM000664.1:g.71871119A>G	GRCh37
NC_000002.10:g.71724627A>G	NCBI36
NG_008694.1:g.195367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1966A>G	ENSP00000513536.1:p.Ser656Gly
ENST00000698058.1:c.1183A>G	ENSP00000513537.1:p.Ser395Gly
ENST00000698059.1:c.1291A>G	ENSP00000513538.1:p.Ser431Gly
ENST00000258104.8:c.4435A>G MANE Plus Clinical	ENSP00000258104.3:p.Ser1479Gly
ENST00000410020.8:c.4552A>G MANE Select	ENSP00000386881.3:p.Ser1518Gly
ENST00000258104.7:c.4435A>G	ENSP00000258104.3:p.Ser1479Gly
ENST00000394120.6:c.4438A>G	ENSP00000377678.2:p.Ser1480Gly
ENST00000409366.5:c.4501A>G	ENSP00000386512.1:p.Ser1501Gly
ENST00000409582.7:c.4549A>G	ENSP00000386547.3:p.Ser1517Gly
ENST00000409651.5:c.4531A>G	ENSP00000386683.1:p.Ser1511Gly
ENST00000409744.5:c.4459A>G	ENSP00000386285.1:p.Ser1487Gly
ENST00000409762.5:c.4486A>G	ENSP00000387137.1:p.Ser1496Gly
ENST00000410020.7:c.4552A>G	ENSP00000386881.3:p.Ser1518Gly
ENST00000410041.1:c.4489A>G	ENSP00000386617.1:p.Ser1497Gly
ENST00000413539.6:c.4528A>G	ENSP00000407046.2:p.Ser1510Gly
ENST00000429174.6:c.4498A>G	ENSP00000398305.2:p.Ser1500Gly
ENST00000468173.1:n.734A>G
ENST00000479049.6:n.1320A>G
NM_001130455.1:c.4438A>G	NP_001123927.1:p.Ser1480Gly
NM_001130976.1:c.4393A>G	NP_001124448.1:p.Ser1465Gly
NM_001130977.1:c.4456A>G	NP_001124449.1:p.Ser1486Gly
NM_001130978.1:c.4498A>G	NP_001124450.1:p.Ser1500Gly
NM_001130979.1:c.4528A>G	NP_001124451.1:p.Ser1510Gly
NM_001130980.1:c.4486A>G	NP_001124452.1:p.Ser1496Gly
NM_001130981.1:c.4549A>G	NP_001124453.1:p.Ser1517Gly
NM_001130982.1:c.4531A>G	NP_001124454.1:p.Ser1511Gly
NM_001130983.1:c.4501A>G	NP_001124455.1:p.Ser1501Gly
NM_001130984.1:c.4459A>G	NP_001124456.1:p.Ser1487Gly
NM_001130985.1:c.4489A>G	NP_001124457.1:p.Ser1497Gly
NM_001130986.1:c.4396A>G	NP_001124458.1:p.Ser1466Gly
NM_001130987.1:c.4552A>G	NP_001124459.1:p.Ser1518Gly
NM_003494.3:c.4435A>G	NP_003485.1:p.Ser1479Gly
XM_005264584.3:c.4594A>G	XP_005264641.1:p.Ser1532Gly
XM_005264585.3:c.4591A>G	XP_005264642.1:p.Ser1531Gly
XM_005264584.4:c.4594A>G	XP_005264641.1:p.Ser1532Gly
XM_005264585.5:c.4591A>G	XP_005264642.1:p.Ser1531Gly
XR_001738969.1:n.4752A>G
NM_001130987.2:c.4552A>G MANE Select	NP_001124459.1:p.Ser1518Gly
NM_001130455.2:c.4438A>G	NP_001123927.1:p.Ser1480Gly
NM_001130976.2:c.4393A>G	NP_001124448.1:p.Ser1465Gly
NM_001130977.2:c.4456A>G	NP_001124449.1:p.Ser1486Gly
NM_001130978.2:c.4498A>G	NP_001124450.1:p.Ser1500Gly
NM_001130979.2:c.4528A>G	NP_001124451.1:p.Ser1510Gly
NM_001130980.2:c.4486A>G	NP_001124452.1:p.Ser1496Gly
NM_001130981.2:c.4549A>G	NP_001124453.1:p.Ser1517Gly
NM_001130982.2:c.4531A>G	NP_001124454.1:p.Ser1511Gly
NM_001130983.2:c.4501A>G	NP_001124455.1:p.Ser1501Gly
NM_001130984.2:c.4459A>G	NP_001124456.1:p.Ser1487Gly
NM_001130985.2:c.4489A>G	NP_001124457.1:p.Ser1497Gly
NM_001130986.2:c.4396A>G	NP_001124458.1:p.Ser1466Gly
NM_003494.4:c.4435A>G MANE Plus Clinical	NP_003485.1:p.Ser1479Gly