Canonical Allele Identifier: CA347218392

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1014406
• ClinVar RCV Id: RCV001313136
• dbSNP Id: rs998546221
• MyVariant Identifiers: chr2:g.71780174G>A (hg19) ; chr2:g.71553044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71553044G>A , CM000664.2:g.71553044G>A	GRCh38
NC_000002.11:g.71780174G>A , CM000664.1:g.71780174G>A	GRCh37
NC_000002.10:g.71633682G>A	NCBI36
NG_008694.1:g.104422G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.1786G>A MANE Plus Clinical	ENSP00000258104.3:p.Ala596Thr
ENST00000410020.8:c.1840G>A MANE Select	ENSP00000386881.3:p.Ala614Thr
ENST00000258104.7:c.1786G>A	ENSP00000258104.3:p.Ala596Thr
ENST00000394120.6:c.1789G>A	ENSP00000377678.2:p.Ala597Thr
ENST00000409366.5:c.1789G>A	ENSP00000386512.1:p.Ala597Thr
ENST00000409582.7:c.1837G>A	ENSP00000386547.3:p.Ala613Thr
ENST00000409651.5:c.1882G>A	ENSP00000386683.1:p.Ala628Thr
ENST00000409744.5:c.1747G>A	ENSP00000386285.1:p.Ala583Thr
ENST00000409762.5:c.1837G>A	ENSP00000387137.1:p.Ala613Thr
ENST00000410020.7:c.1840G>A	ENSP00000386881.3:p.Ala614Thr
ENST00000410041.1:c.1840G>A	ENSP00000386617.1:p.Ala614Thr
ENST00000413539.6:c.1879G>A	ENSP00000407046.2:p.Ala627Thr
ENST00000429174.6:c.1786G>A	ENSP00000398305.2:p.Ala596Thr
NM_001130455.1:c.1789G>A	NP_001123927.1:p.Ala597Thr
NM_001130976.1:c.1744G>A	NP_001124448.1:p.Ala582Thr
NM_001130977.1:c.1744G>A	NP_001124449.1:p.Ala582Thr
NM_001130978.1:c.1786G>A	NP_001124450.1:p.Ala596Thr
NM_001130979.1:c.1879G>A	NP_001124451.1:p.Ala627Thr
NM_001130980.1:c.1837G>A	NP_001124452.1:p.Ala613Thr
NM_001130981.1:c.1837G>A	NP_001124453.1:p.Ala613Thr
NM_001130982.1:c.1882G>A	NP_001124454.1:p.Ala628Thr
NM_001130983.1:c.1789G>A	NP_001124455.1:p.Ala597Thr
NM_001130984.1:c.1747G>A	NP_001124456.1:p.Ala583Thr
NM_001130985.1:c.1840G>A	NP_001124457.1:p.Ala614Thr
NM_001130986.1:c.1747G>A	NP_001124458.1:p.Ala583Thr
NM_001130987.1:c.1840G>A	NP_001124459.1:p.Ala614Thr
NM_003494.3:c.1786G>A	NP_003485.1:p.Ala596Thr
XM_005264584.3:c.1882G>A	XP_005264641.1:p.Ala628Thr
XM_005264585.3:c.1879G>A	XP_005264642.1:p.Ala627Thr
XM_005264584.4:c.1882G>A	XP_005264641.1:p.Ala628Thr
XM_005264585.5:c.1879G>A	XP_005264642.1:p.Ala627Thr
XR_001738969.1:n.2040G>A
NM_001130987.2:c.1840G>A MANE Select	NP_001124459.1:p.Ala614Thr
NM_001130455.2:c.1789G>A	NP_001123927.1:p.Ala597Thr
NM_001130976.2:c.1744G>A	NP_001124448.1:p.Ala582Thr
NM_001130977.2:c.1744G>A	NP_001124449.1:p.Ala582Thr
NM_001130978.2:c.1786G>A	NP_001124450.1:p.Ala596Thr
NM_001130979.2:c.1879G>A	NP_001124451.1:p.Ala627Thr
NM_001130980.2:c.1837G>A	NP_001124452.1:p.Ala613Thr
NM_001130981.2:c.1837G>A	NP_001124453.1:p.Ala613Thr
NM_001130982.2:c.1882G>A	NP_001124454.1:p.Ala628Thr
NM_001130983.2:c.1789G>A	NP_001124455.1:p.Ala597Thr
NM_001130984.2:c.1747G>A	NP_001124456.1:p.Ala583Thr
NM_001130985.2:c.1840G>A	NP_001124457.1:p.Ala614Thr
NM_001130986.2:c.1747G>A	NP_001124458.1:p.Ala583Thr
NM_003494.4:c.1786G>A MANE Plus Clinical	NP_003485.1:p.Ala596Thr