Canonical Allele Identifier: CA347227885

Gene: DYSF

Linked Data

• ClinVar Variation Id: 896081
• ClinVar RCV Id: RCV001138530
• dbSNP Id: rs1188699540
• gnomAD v2: 2-71913602-C-G
• gnomAD v4: 2-71686472-C-G
• MyVariant Identifiers: chr2:g.71913602C>G (hg19) ; chr2:g.71686472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686472C>G , CM000664.2:g.71686472C>G	GRCh38
NC_000002.11:g.71913602C>G , CM000664.1:g.71913602C>G	GRCh37
NC_000002.10:g.71767110C>G	NCBI36
NG_008694.1:g.237850C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3754C>G	ENSP00000513536.1:p.Leu1252Val
ENST00000698058.1:c.2971C>G	ENSP00000513537.1:p.Leu991Val
ENST00000698059.1:c.3079C>G	ENSP00000513538.1:p.Leu1027Val
ENST00000258104.8:c.6223C>G MANE Plus Clinical	ENSP00000258104.3:p.Leu2075Val
ENST00000410020.8:c.6340C>G MANE Select	ENSP00000386881.3:p.Leu2114Val
ENST00000258104.7:c.6223C>G	ENSP00000258104.3:p.Leu2075Val
ENST00000394120.6:c.6226C>G	ENSP00000377678.2:p.Leu2076Val
ENST00000409366.5:c.6289C>G	ENSP00000386512.1:p.Leu2097Val
ENST00000409582.7:c.6337C>G	ENSP00000386547.3:p.Leu2113Val
ENST00000409651.5:c.6319C>G	ENSP00000386683.1:p.Leu2107Val
ENST00000409744.5:c.6247C>G	ENSP00000386285.1:p.Leu2083Val
ENST00000409762.5:c.6274C>G	ENSP00000387137.1:p.Leu2092Val
ENST00000410020.7:c.6340C>G	ENSP00000386881.3:p.Leu2114Val
ENST00000410041.1:c.6277C>G	ENSP00000386617.1:p.Leu2093Val
ENST00000413539.6:c.6316C>G	ENSP00000407046.2:p.Leu2106Val
ENST00000429174.6:c.6286C>G	ENSP00000398305.2:p.Leu2096Val
ENST00000479049.6:n.3108C>G
NM_001130455.1:c.6226C>G	NP_001123927.1:p.Leu2076Val
NM_001130976.1:c.6181C>G	NP_001124448.1:p.Leu2061Val
NM_001130977.1:c.6244C>G	NP_001124449.1:p.Leu2082Val
NM_001130978.1:c.6286C>G	NP_001124450.1:p.Leu2096Val
NM_001130979.1:c.6316C>G	NP_001124451.1:p.Leu2106Val
NM_001130980.1:c.6274C>G	NP_001124452.1:p.Leu2092Val
NM_001130981.1:c.6337C>G	NP_001124453.1:p.Leu2113Val
NM_001130982.1:c.6319C>G	NP_001124454.1:p.Leu2107Val
NM_001130983.1:c.6289C>G	NP_001124455.1:p.Leu2097Val
NM_001130984.1:c.6247C>G	NP_001124456.1:p.Leu2083Val
NM_001130985.1:c.6277C>G	NP_001124457.1:p.Leu2093Val
NM_001130986.1:c.6184C>G	NP_001124458.1:p.Leu2062Val
NM_001130987.1:c.6340C>G	NP_001124459.1:p.Leu2114Val
NM_003494.3:c.6223C>G	NP_003485.1:p.Leu2075Val
XM_005264584.3:c.6382C>G	XP_005264641.1:p.Leu2128Val
XM_005264585.3:c.6379C>G	XP_005264642.1:p.Leu2127Val
XM_005264584.4:c.6382C>G	XP_005264641.1:p.Leu2128Val
XM_005264585.5:c.6379C>G	XP_005264642.1:p.Leu2127Val
NM_001130987.2:c.6340C>G MANE Select	NP_001124459.1:p.Leu2114Val
NM_001130455.2:c.6226C>G	NP_001123927.1:p.Leu2076Val
NM_001130976.2:c.6181C>G	NP_001124448.1:p.Leu2061Val
NM_001130977.2:c.6244C>G	NP_001124449.1:p.Leu2082Val
NM_001130978.2:c.6286C>G	NP_001124450.1:p.Leu2096Val
NM_001130979.2:c.6316C>G	NP_001124451.1:p.Leu2106Val
NM_001130980.2:c.6274C>G	NP_001124452.1:p.Leu2092Val
NM_001130981.2:c.6337C>G	NP_001124453.1:p.Leu2113Val
NM_001130982.2:c.6319C>G	NP_001124454.1:p.Leu2107Val
NM_001130983.2:c.6289C>G	NP_001124455.1:p.Leu2097Val
NM_001130984.2:c.6247C>G	NP_001124456.1:p.Leu2083Val
NM_001130985.2:c.6277C>G	NP_001124457.1:p.Leu2093Val
NM_001130986.2:c.6184C>G	NP_001124458.1:p.Leu2062Val
NM_003494.4:c.6223C>G MANE Plus Clinical	NP_003485.1:p.Leu2075Val