Canonical Allele Identifier: CA347217314

Gene: DYSF

Linked Data

• dbSNP Id: rs1182750354
• gnomAD v2: 2-71778182-C-G
• gnomAD v4: 2-71551052-C-G
• MyVariant Identifiers: chr2:g.71778182C>G (hg19) ; chr2:g.71551052C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71551052C>G , CM000664.2:g.71551052C>G	GRCh38
NC_000002.11:g.71778182C>G , CM000664.1:g.71778182C>G	GRCh37
NC_000002.10:g.71631690C>G	NCBI36
NG_008694.1:g.102430C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.1534C>G MANE Plus Clinical	ENSP00000258104.3:p.Leu512Val
ENST00000410020.8:c.1588C>G MANE Select	ENSP00000386881.3:p.Leu530Val
ENST00000258104.7:c.1534C>G	ENSP00000258104.3:p.Leu512Val
ENST00000394120.6:c.1537C>G	ENSP00000377678.2:p.Leu513Val
ENST00000409366.5:c.1537C>G	ENSP00000386512.1:p.Leu513Val
ENST00000409582.7:c.1585C>G	ENSP00000386547.3:p.Leu529Val
ENST00000409651.5:c.1630C>G	ENSP00000386683.1:p.Leu544Val
ENST00000409744.5:c.1495C>G	ENSP00000386285.1:p.Leu499Val
ENST00000409762.5:c.1585C>G	ENSP00000387137.1:p.Leu529Val
ENST00000410020.7:c.1588C>G	ENSP00000386881.3:p.Leu530Val
ENST00000410041.1:c.1588C>G	ENSP00000386617.1:p.Leu530Val
ENST00000413539.6:c.1627C>G	ENSP00000407046.2:p.Leu543Val
ENST00000429174.6:c.1534C>G	ENSP00000398305.2:p.Leu512Val
NM_001130455.1:c.1537C>G	NP_001123927.1:p.Leu513Val
NM_001130976.1:c.1492C>G	NP_001124448.1:p.Leu498Val
NM_001130977.1:c.1492C>G	NP_001124449.1:p.Leu498Val
NM_001130978.1:c.1534C>G	NP_001124450.1:p.Leu512Val
NM_001130979.1:c.1627C>G	NP_001124451.1:p.Leu543Val
NM_001130980.1:c.1585C>G	NP_001124452.1:p.Leu529Val
NM_001130981.1:c.1585C>G	NP_001124453.1:p.Leu529Val
NM_001130982.1:c.1630C>G	NP_001124454.1:p.Leu544Val
NM_001130983.1:c.1537C>G	NP_001124455.1:p.Leu513Val
NM_001130984.1:c.1495C>G	NP_001124456.1:p.Leu499Val
NM_001130985.1:c.1588C>G	NP_001124457.1:p.Leu530Val
NM_001130986.1:c.1495C>G	NP_001124458.1:p.Leu499Val
NM_001130987.1:c.1588C>G	NP_001124459.1:p.Leu530Val
NM_003494.3:c.1534C>G	NP_003485.1:p.Leu512Val
XM_005264584.3:c.1630C>G	XP_005264641.1:p.Leu544Val
XM_005264585.3:c.1627C>G	XP_005264642.1:p.Leu543Val
XM_005264584.4:c.1630C>G	XP_005264641.1:p.Leu544Val
XM_005264585.5:c.1627C>G	XP_005264642.1:p.Leu543Val
XR_001738969.1:n.1788C>G
NM_001130987.2:c.1588C>G MANE Select	NP_001124459.1:p.Leu530Val
NM_001130455.2:c.1537C>G	NP_001123927.1:p.Leu513Val
NM_001130976.2:c.1492C>G	NP_001124448.1:p.Leu498Val
NM_001130977.2:c.1492C>G	NP_001124449.1:p.Leu498Val
NM_001130978.2:c.1534C>G	NP_001124450.1:p.Leu512Val
NM_001130979.2:c.1627C>G	NP_001124451.1:p.Leu543Val
NM_001130980.2:c.1585C>G	NP_001124452.1:p.Leu529Val
NM_001130981.2:c.1585C>G	NP_001124453.1:p.Leu529Val
NM_001130982.2:c.1630C>G	NP_001124454.1:p.Leu544Val
NM_001130983.2:c.1537C>G	NP_001124455.1:p.Leu513Val
NM_001130984.2:c.1495C>G	NP_001124456.1:p.Leu499Val
NM_001130985.2:c.1588C>G	NP_001124457.1:p.Leu530Val
NM_001130986.2:c.1495C>G	NP_001124458.1:p.Leu499Val
NM_003494.4:c.1534C>G MANE Plus Clinical	NP_003485.1:p.Leu512Val