Canonical Allele Identifier: CA347228037

Gene: DYSF

Linked Data

• dbSNP Id: rs1478400606
• gnomAD v4: 2-71611254-A-G
• MyVariant Identifiers: chr2:g.71838384A>G (hg19) ; chr2:g.71611254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611254A>G , CM000664.2:g.71611254A>G	GRCh38
NC_000002.11:g.71838384A>G , CM000664.1:g.71838384A>G	GRCh37
NC_000002.10:g.71691892A>G	NCBI36
NG_008694.1:g.162632A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1381A>G	ENSP00000513536.1:p.Thr461Ala
ENST00000698058.1:c.598A>G	ENSP00000513537.1:p.Thr200Ala
ENST00000698059.1:c.556A>G	ENSP00000513538.1:p.Thr186Ala
ENST00000258104.8:c.3913A>G MANE Plus Clinical	ENSP00000258104.3:p.Thr1305Ala
ENST00000410020.8:c.3967A>G MANE Select	ENSP00000386881.3:p.Thr1323Ala
ENST00000258104.7:c.3913A>G	ENSP00000258104.3:p.Thr1305Ala
ENST00000394120.6:c.3916A>G	ENSP00000377678.2:p.Thr1306Ala
ENST00000409366.5:c.3916A>G	ENSP00000386512.1:p.Thr1306Ala
ENST00000409582.7:c.3964A>G	ENSP00000386547.3:p.Thr1322Ala
ENST00000409651.5:c.4009A>G	ENSP00000386683.1:p.Thr1337Ala
ENST00000409744.5:c.3874A>G	ENSP00000386285.1:p.Thr1292Ala
ENST00000409762.5:c.3964A>G	ENSP00000387137.1:p.Thr1322Ala
ENST00000410020.7:c.3967A>G	ENSP00000386881.3:p.Thr1323Ala
ENST00000410041.1:c.3967A>G	ENSP00000386617.1:p.Thr1323Ala
ENST00000413539.6:c.4006A>G	ENSP00000407046.2:p.Thr1336Ala
ENST00000429174.6:c.3913A>G	ENSP00000398305.2:p.Thr1305Ala
ENST00000468173.1:n.149A>G
ENST00000472873.5:n.297A>G
ENST00000479049.6:n.798A>G
ENST00000487180.5:n.132A>G
ENST00000494501.5:n.273A>G
NM_001130455.1:c.3916A>G	NP_001123927.1:p.Thr1306Ala
NM_001130976.1:c.3871A>G	NP_001124448.1:p.Thr1291Ala
NM_001130977.1:c.3871A>G	NP_001124449.1:p.Thr1291Ala
NM_001130978.1:c.3913A>G	NP_001124450.1:p.Thr1305Ala
NM_001130979.1:c.4006A>G	NP_001124451.1:p.Thr1336Ala
NM_001130980.1:c.3964A>G	NP_001124452.1:p.Thr1322Ala
NM_001130981.1:c.3964A>G	NP_001124453.1:p.Thr1322Ala
NM_001130982.1:c.4009A>G	NP_001124454.1:p.Thr1337Ala
NM_001130983.1:c.3916A>G	NP_001124455.1:p.Thr1306Ala
NM_001130984.1:c.3874A>G	NP_001124456.1:p.Thr1292Ala
NM_001130985.1:c.3967A>G	NP_001124457.1:p.Thr1323Ala
NM_001130986.1:c.3874A>G	NP_001124458.1:p.Thr1292Ala
NM_001130987.1:c.3967A>G	NP_001124459.1:p.Thr1323Ala
NM_003494.3:c.3913A>G	NP_003485.1:p.Thr1305Ala
XM_005264584.3:c.4009A>G	XP_005264641.1:p.Thr1337Ala
XM_005264585.3:c.4006A>G	XP_005264642.1:p.Thr1336Ala
XM_005264584.4:c.4009A>G	XP_005264641.1:p.Thr1337Ala
XM_005264585.5:c.4006A>G	XP_005264642.1:p.Thr1336Ala
XR_001738969.1:n.4167A>G
NM_001130987.2:c.3967A>G MANE Select	NP_001124459.1:p.Thr1323Ala
NM_001130455.2:c.3916A>G	NP_001123927.1:p.Thr1306Ala
NM_001130976.2:c.3871A>G	NP_001124448.1:p.Thr1291Ala
NM_001130977.2:c.3871A>G	NP_001124449.1:p.Thr1291Ala
NM_001130978.2:c.3913A>G	NP_001124450.1:p.Thr1305Ala
NM_001130979.2:c.4006A>G	NP_001124451.1:p.Thr1336Ala
NM_001130980.2:c.3964A>G	NP_001124452.1:p.Thr1322Ala
NM_001130981.2:c.3964A>G	NP_001124453.1:p.Thr1322Ala
NM_001130982.2:c.4009A>G	NP_001124454.1:p.Thr1337Ala
NM_001130983.2:c.3916A>G	NP_001124455.1:p.Thr1306Ala
NM_001130984.2:c.3874A>G	NP_001124456.1:p.Thr1292Ala
NM_001130985.2:c.3967A>G	NP_001124457.1:p.Thr1323Ala
NM_001130986.2:c.3874A>G	NP_001124458.1:p.Thr1292Ala
NM_003494.4:c.3913A>G MANE Plus Clinical	NP_003485.1:p.Thr1305Ala