Canonical Allele Identifier: CA347226540

Gene: DYSF

Linked Data

• dbSNP Id: rs1417033436
• gnomAD v2: 2-71906333-G-A
• gnomAD v4: 2-71679203-G-A
• MyVariant Identifiers: chr2:g.71906333G>A (hg19) ; chr2:g.71679203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679203G>A , CM000664.2:g.71679203G>A	GRCh38
NC_000002.11:g.71906333G>A , CM000664.1:g.71906333G>A	GRCh37
NC_000002.10:g.71759841G>A	NCBI36
NG_008694.1:g.230581G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3445G>A	ENSP00000513536.1:p.Val1149Ile
ENST00000698058.1:c.2662G>A	ENSP00000513537.1:p.Val888Ile
ENST00000698059.1:c.2770G>A	ENSP00000513538.1:p.Val924Ile
ENST00000258104.8:c.5914G>A MANE Plus Clinical	ENSP00000258104.3:p.Val1972Ile
ENST00000410020.8:c.6031G>A MANE Select	ENSP00000386881.3:p.Val2011Ile
ENST00000258104.7:c.5914G>A	ENSP00000258104.3:p.Val1972Ile
ENST00000394120.6:c.5917G>A	ENSP00000377678.2:p.Val1973Ile
ENST00000409366.5:c.5980G>A	ENSP00000386512.1:p.Val1994Ile
ENST00000409582.7:c.6028G>A	ENSP00000386547.3:p.Val2010Ile
ENST00000409651.5:c.6010G>A	ENSP00000386683.1:p.Val2004Ile
ENST00000409744.5:c.5938G>A	ENSP00000386285.1:p.Val1980Ile
ENST00000409762.5:c.5965G>A	ENSP00000387137.1:p.Val1989Ile
ENST00000410020.7:c.6031G>A	ENSP00000386881.3:p.Val2011Ile
ENST00000410041.1:c.5968G>A	ENSP00000386617.1:p.Val1990Ile
ENST00000413539.6:c.6007G>A	ENSP00000407046.2:p.Val2003Ile
ENST00000429174.6:c.5977G>A	ENSP00000398305.2:p.Val1993Ile
ENST00000479049.6:n.2799G>A
NM_001130455.1:c.5917G>A	NP_001123927.1:p.Val1973Ile
NM_001130976.1:c.5872G>A	NP_001124448.1:p.Val1958Ile
NM_001130977.1:c.5935G>A	NP_001124449.1:p.Val1979Ile
NM_001130978.1:c.5977G>A	NP_001124450.1:p.Val1993Ile
NM_001130979.1:c.6007G>A	NP_001124451.1:p.Val2003Ile
NM_001130980.1:c.5965G>A	NP_001124452.1:p.Val1989Ile
NM_001130981.1:c.6028G>A	NP_001124453.1:p.Val2010Ile
NM_001130982.1:c.6010G>A	NP_001124454.1:p.Val2004Ile
NM_001130983.1:c.5980G>A	NP_001124455.1:p.Val1994Ile
NM_001130984.1:c.5938G>A	NP_001124456.1:p.Val1980Ile
NM_001130985.1:c.5968G>A	NP_001124457.1:p.Val1990Ile
NM_001130986.1:c.5875G>A	NP_001124458.1:p.Val1959Ile
NM_001130987.1:c.6031G>A	NP_001124459.1:p.Val2011Ile
NM_003494.3:c.5914G>A	NP_003485.1:p.Val1972Ile
XM_005264584.3:c.6073G>A	XP_005264641.1:p.Val2025Ile
XM_005264585.3:c.6070G>A	XP_005264642.1:p.Val2024Ile
XM_005264584.4:c.6073G>A	XP_005264641.1:p.Val2025Ile
XM_005264585.5:c.6070G>A	XP_005264642.1:p.Val2024Ile
NM_001130987.2:c.6031G>A MANE Select	NP_001124459.1:p.Val2011Ile
NM_001130455.2:c.5917G>A	NP_001123927.1:p.Val1973Ile
NM_001130976.2:c.5872G>A	NP_001124448.1:p.Val1958Ile
NM_001130977.2:c.5935G>A	NP_001124449.1:p.Val1979Ile
NM_001130978.2:c.5977G>A	NP_001124450.1:p.Val1993Ile
NM_001130979.2:c.6007G>A	NP_001124451.1:p.Val2003Ile
NM_001130980.2:c.5965G>A	NP_001124452.1:p.Val1989Ile
NM_001130981.2:c.6028G>A	NP_001124453.1:p.Val2010Ile
NM_001130982.2:c.6010G>A	NP_001124454.1:p.Val2004Ile
NM_001130983.2:c.5980G>A	NP_001124455.1:p.Val1994Ile
NM_001130984.2:c.5938G>A	NP_001124456.1:p.Val1980Ile
NM_001130985.2:c.5968G>A	NP_001124457.1:p.Val1990Ile
NM_001130986.2:c.5875G>A	NP_001124458.1:p.Val1959Ile
NM_003494.4:c.5914G>A MANE Plus Clinical	NP_003485.1:p.Val1972Ile