Canonical Allele Identifier: CA1706460

Gene: DYSF

Linked Data

• ClinVar Variation Id: 804768
• ClinVar RCV Id: RCV000991932
• dbSNP Id: rs781120136
• ExAC: 2:71797845 C / G
• gnomAD v2: 2-71797845-C-G
• gnomAD v3: 2-71570715-C-G
• gnomAD v4: 2-71570715-C-G
• MyVariant Identifiers: chr2:g.71797845C>G (hg19) ; chr2:g.71570715C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570715C>G , CM000664.2:g.71570715C>G	GRCh38
NC_000002.11:g.71797845C>G , CM000664.1:g.71797845C>G	GRCh37
NC_000002.10:g.71651353C>G	NCBI36
NG_008694.1:g.122093C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.574C>G	ENSP00000513536.1:p.Leu192Val
ENST00000258104.8:c.3148C>G MANE Plus Clinical	ENSP00000258104.3:p.Leu1050Val
ENST00000410020.8:c.3202C>G MANE Select	ENSP00000386881.3:p.Leu1068Val
ENST00000258104.7:c.3148C>G	ENSP00000258104.3:p.Leu1050Val
ENST00000394120.6:c.3151C>G	ENSP00000377678.2:p.Leu1051Val
ENST00000409366.5:c.3151C>G	ENSP00000386512.1:p.Leu1051Val
ENST00000409582.7:c.3199C>G	ENSP00000386547.3:p.Leu1067Val
ENST00000409651.5:c.3244C>G	ENSP00000386683.1:p.Leu1082Val
ENST00000409744.5:c.3109C>G	ENSP00000386285.1:p.Leu1037Val
ENST00000409762.5:c.3199C>G	ENSP00000387137.1:p.Leu1067Val
ENST00000410020.7:c.3202C>G	ENSP00000386881.3:p.Leu1068Val
ENST00000410041.1:c.3202C>G	ENSP00000386617.1:p.Leu1068Val
ENST00000413539.6:c.3241C>G	ENSP00000407046.2:p.Leu1081Val
ENST00000429174.6:c.3148C>G	ENSP00000398305.2:p.Leu1050Val
ENST00000461565.1:n.314C>G
NM_001130455.1:c.3151C>G	NP_001123927.1:p.Leu1051Val
NM_001130976.1:c.3106C>G	NP_001124448.1:p.Leu1036Val
NM_001130977.1:c.3106C>G	NP_001124449.1:p.Leu1036Val
NM_001130978.1:c.3148C>G	NP_001124450.1:p.Leu1050Val
NM_001130979.1:c.3241C>G	NP_001124451.1:p.Leu1081Val
NM_001130980.1:c.3199C>G	NP_001124452.1:p.Leu1067Val
NM_001130981.1:c.3199C>G	NP_001124453.1:p.Leu1067Val
NM_001130982.1:c.3244C>G	NP_001124454.1:p.Leu1082Val
NM_001130983.1:c.3151C>G	NP_001124455.1:p.Leu1051Val
NM_001130984.1:c.3109C>G	NP_001124456.1:p.Leu1037Val
NM_001130985.1:c.3202C>G	NP_001124457.1:p.Leu1068Val
NM_001130986.1:c.3109C>G	NP_001124458.1:p.Leu1037Val
NM_001130987.1:c.3202C>G	NP_001124459.1:p.Leu1068Val
NM_003494.3:c.3148C>G	NP_003485.1:p.Leu1050Val
XM_005264584.3:c.3244C>G	XP_005264641.1:p.Leu1082Val
XM_005264585.3:c.3241C>G	XP_005264642.1:p.Leu1081Val
XM_005264584.4:c.3244C>G	XP_005264641.1:p.Leu1082Val
XM_005264585.5:c.3241C>G	XP_005264642.1:p.Leu1081Val
XR_001738969.1:n.3402C>G
NM_001130987.2:c.3202C>G MANE Select	NP_001124459.1:p.Leu1068Val
NM_001130455.2:c.3151C>G	NP_001123927.1:p.Leu1051Val
NM_001130976.2:c.3106C>G	NP_001124448.1:p.Leu1036Val
NM_001130977.2:c.3106C>G	NP_001124449.1:p.Leu1036Val
NM_001130978.2:c.3148C>G	NP_001124450.1:p.Leu1050Val
NM_001130979.2:c.3241C>G	NP_001124451.1:p.Leu1081Val
NM_001130980.2:c.3199C>G	NP_001124452.1:p.Leu1067Val
NM_001130981.2:c.3199C>G	NP_001124453.1:p.Leu1067Val
NM_001130982.2:c.3244C>G	NP_001124454.1:p.Leu1082Val
NM_001130983.2:c.3151C>G	NP_001124455.1:p.Leu1051Val
NM_001130984.2:c.3109C>G	NP_001124456.1:p.Leu1037Val
NM_001130985.2:c.3202C>G	NP_001124457.1:p.Leu1068Val
NM_001130986.2:c.3109C>G	NP_001124458.1:p.Leu1037Val
NM_003494.4:c.3148C>G MANE Plus Clinical	NP_003485.1:p.Leu1050Val