Canonical Allele Identifier: CA233939

Gene: DYSF

Linked Data

• ClinVar Variation Id: 167026
• ClinVar RCV Id: RCV000153184 ; RCV001857527 ; RCV003462059
• dbSNP Id: rs727503912
• gnomAD v4: 2-71667441-C-T
• MyVariant Identifiers: chr2:g.71894571C>T (hg19) ; chr2:g.71667441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71667441C>T , CM000664.2:g.71667441C>T	GRCh38
NC_000002.11:g.71894571C>T , CM000664.1:g.71894571C>T	GRCh37
NC_000002.10:g.71748079C>T	NCBI36
NG_008694.1:g.218819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2797C>T	ENSP00000513536.1:p.Gln933Ter
ENST00000698058.1:c.2014C>T	ENSP00000513537.1:p.Gln672Ter
ENST00000698059.1:c.2122C>T	ENSP00000513538.1:p.Gln708Ter
ENST00000258104.8:c.5266C>T MANE Plus Clinical	ENSP00000258104.3:p.Gln1756Ter
ENST00000410020.8:c.5383C>T MANE Select	ENSP00000386881.3:p.Gln1795Ter
ENST00000258104.7:c.5266C>T	ENSP00000258104.3:p.Gln1756Ter
ENST00000394120.6:c.5269C>T	ENSP00000377678.2:p.Gln1757Ter
ENST00000409366.5:c.5332C>T	ENSP00000386512.1:p.Gln1778Ter
ENST00000409582.7:c.5380C>T	ENSP00000386547.3:p.Gln1794Ter
ENST00000409651.5:c.5362C>T	ENSP00000386683.1:p.Gln1788Ter
ENST00000409744.5:c.5290C>T	ENSP00000386285.1:p.Gln1764Ter
ENST00000409762.5:c.5317C>T	ENSP00000387137.1:p.Gln1773Ter
ENST00000410020.7:c.5383C>T	ENSP00000386881.3:p.Gln1795Ter
ENST00000410041.1:c.5320C>T	ENSP00000386617.1:p.Gln1774Ter
ENST00000413539.6:c.5359C>T	ENSP00000407046.2:p.Gln1787Ter
ENST00000429174.6:c.5329C>T	ENSP00000398305.2:p.Gln1777Ter
ENST00000479049.6:n.2151C>T
NM_001130455.1:c.5269C>T	NP_001123927.1:p.Gln1757Ter
NM_001130976.1:c.5224C>T	NP_001124448.1:p.Gln1742Ter
NM_001130977.1:c.5287C>T	NP_001124449.1:p.Gln1763Ter
NM_001130978.1:c.5329C>T	NP_001124450.1:p.Gln1777Ter
NM_001130979.1:c.5359C>T	NP_001124451.1:p.Gln1787Ter
NM_001130980.1:c.5317C>T	NP_001124452.1:p.Gln1773Ter
NM_001130981.1:c.5380C>T	NP_001124453.1:p.Gln1794Ter
NM_001130982.1:c.5362C>T	NP_001124454.1:p.Gln1788Ter
NM_001130983.1:c.5332C>T	NP_001124455.1:p.Gln1778Ter
NM_001130984.1:c.5290C>T	NP_001124456.1:p.Gln1764Ter
NM_001130985.1:c.5320C>T	NP_001124457.1:p.Gln1774Ter
NM_001130986.1:c.5227C>T	NP_001124458.1:p.Gln1743Ter
NM_001130987.1:c.5383C>T	NP_001124459.1:p.Gln1795Ter
NM_003494.3:c.5266C>T	NP_003485.1:p.Gln1756Ter
XM_005264584.3:c.5425C>T	XP_005264641.1:p.Gln1809Ter
XM_005264585.3:c.5422C>T	XP_005264642.1:p.Gln1808Ter
XM_005264584.4:c.5425C>T	XP_005264641.1:p.Gln1809Ter
XM_005264585.5:c.5422C>T	XP_005264642.1:p.Gln1808Ter
NM_001130987.2:c.5383C>T MANE Select	NP_001124459.1:p.Gln1795Ter
NM_001130455.2:c.5269C>T	NP_001123927.1:p.Gln1757Ter
NM_001130976.2:c.5224C>T	NP_001124448.1:p.Gln1742Ter
NM_001130977.2:c.5287C>T	NP_001124449.1:p.Gln1763Ter
NM_001130978.2:c.5329C>T	NP_001124450.1:p.Gln1777Ter
NM_001130979.2:c.5359C>T	NP_001124451.1:p.Gln1787Ter
NM_001130980.2:c.5317C>T	NP_001124452.1:p.Gln1773Ter
NM_001130981.2:c.5380C>T	NP_001124453.1:p.Gln1794Ter
NM_001130982.2:c.5362C>T	NP_001124454.1:p.Gln1788Ter
NM_001130983.2:c.5332C>T	NP_001124455.1:p.Gln1778Ter
NM_001130984.2:c.5290C>T	NP_001124456.1:p.Gln1764Ter
NM_001130985.2:c.5320C>T	NP_001124457.1:p.Gln1774Ter
NM_001130986.2:c.5227C>T	NP_001124458.1:p.Gln1743Ter
NM_003494.4:c.5266C>T MANE Plus Clinical	NP_003485.1:p.Gln1756Ter