Canonical Allele Identifier: CA347216989

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1723951
• ClinVar RCV Id: RCV002306506 ; RCV003491083
• MyVariant Identifiers: chr2:g.71797778G>A (hg19) ; chr2:g.71570648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570648G>A , CM000664.2:g.71570648G>A	GRCh38
NC_000002.11:g.71797778G>A , CM000664.1:g.71797778G>A	GRCh37
NC_000002.10:g.71651286G>A	NCBI36
NG_008694.1:g.122026G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.507G>A	ENSP00000513536.1:p.Trp169Ter
ENST00000258104.8:c.3081G>A MANE Plus Clinical	ENSP00000258104.3:p.Trp1027Ter
ENST00000410020.8:c.3135G>A MANE Select	ENSP00000386881.3:p.Trp1045Ter
ENST00000258104.7:c.3081G>A	ENSP00000258104.3:p.Trp1027Ter
ENST00000394120.6:c.3084G>A	ENSP00000377678.2:p.Trp1028Ter
ENST00000409366.5:c.3084G>A	ENSP00000386512.1:p.Trp1028Ter
ENST00000409582.7:c.3132G>A	ENSP00000386547.3:p.Trp1044Ter
ENST00000409651.5:c.3177G>A	ENSP00000386683.1:p.Trp1059Ter
ENST00000409744.5:c.3042G>A	ENSP00000386285.1:p.Trp1014Ter
ENST00000409762.5:c.3132G>A	ENSP00000387137.1:p.Trp1044Ter
ENST00000410020.7:c.3135G>A	ENSP00000386881.3:p.Trp1045Ter
ENST00000410041.1:c.3135G>A	ENSP00000386617.1:p.Trp1045Ter
ENST00000413539.6:c.3174G>A	ENSP00000407046.2:p.Trp1058Ter
ENST00000429174.6:c.3081G>A	ENSP00000398305.2:p.Trp1027Ter
ENST00000461565.1:n.247G>A
NM_001130455.1:c.3084G>A	NP_001123927.1:p.Trp1028Ter
NM_001130976.1:c.3039G>A	NP_001124448.1:p.Trp1013Ter
NM_001130977.1:c.3039G>A	NP_001124449.1:p.Trp1013Ter
NM_001130978.1:c.3081G>A	NP_001124450.1:p.Trp1027Ter
NM_001130979.1:c.3174G>A	NP_001124451.1:p.Trp1058Ter
NM_001130980.1:c.3132G>A	NP_001124452.1:p.Trp1044Ter
NM_001130981.1:c.3132G>A	NP_001124453.1:p.Trp1044Ter
NM_001130982.1:c.3177G>A	NP_001124454.1:p.Trp1059Ter
NM_001130983.1:c.3084G>A	NP_001124455.1:p.Trp1028Ter
NM_001130984.1:c.3042G>A	NP_001124456.1:p.Trp1014Ter
NM_001130985.1:c.3135G>A	NP_001124457.1:p.Trp1045Ter
NM_001130986.1:c.3042G>A	NP_001124458.1:p.Trp1014Ter
NM_001130987.1:c.3135G>A	NP_001124459.1:p.Trp1045Ter
NM_003494.3:c.3081G>A	NP_003485.1:p.Trp1027Ter
XM_005264584.3:c.3177G>A	XP_005264641.1:p.Trp1059Ter
XM_005264585.3:c.3174G>A	XP_005264642.1:p.Trp1058Ter
XM_005264584.4:c.3177G>A	XP_005264641.1:p.Trp1059Ter
XM_005264585.5:c.3174G>A	XP_005264642.1:p.Trp1058Ter
XR_001738969.1:n.3335G>A
NM_001130987.2:c.3135G>A MANE Select	NP_001124459.1:p.Trp1045Ter
NM_001130455.2:c.3084G>A	NP_001123927.1:p.Trp1028Ter
NM_001130976.2:c.3039G>A	NP_001124448.1:p.Trp1013Ter
NM_001130977.2:c.3039G>A	NP_001124449.1:p.Trp1013Ter
NM_001130978.2:c.3081G>A	NP_001124450.1:p.Trp1027Ter
NM_001130979.2:c.3174G>A	NP_001124451.1:p.Trp1058Ter
NM_001130980.2:c.3132G>A	NP_001124452.1:p.Trp1044Ter
NM_001130981.2:c.3132G>A	NP_001124453.1:p.Trp1044Ter
NM_001130982.2:c.3177G>A	NP_001124454.1:p.Trp1059Ter
NM_001130983.2:c.3084G>A	NP_001124455.1:p.Trp1028Ter
NM_001130984.2:c.3042G>A	NP_001124456.1:p.Trp1014Ter
NM_001130985.2:c.3135G>A	NP_001124457.1:p.Trp1045Ter
NM_001130986.2:c.3042G>A	NP_001124458.1:p.Trp1014Ter
NM_003494.4:c.3081G>A MANE Plus Clinical	NP_003485.1:p.Trp1027Ter