Canonical Allele Identifier: CA222170

Gene: DYSF

Linked Data

• ClinVar Variation Id: 94324
• ClinVar RCV Id: RCV000080290 ; RCV001854416 ; RCV003460752
• dbSNP Id: rs398123788
• gnomAD v4: 2-71643993-A-C
• MyVariant Identifiers: chr2:g.71871123A>C (hg19) ; chr2:g.71643993A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71643993A>C , CM000664.2:g.71643993A>C	GRCh38
NC_000002.11:g.71871123A>C , CM000664.1:g.71871123A>C	GRCh37
NC_000002.10:g.71724631A>C	NCBI36
NG_008694.1:g.195371A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1970A>C	ENSP00000513536.1:p.Lys657Thr
ENST00000698058.1:c.1187A>C	ENSP00000513537.1:p.Lys396Thr
ENST00000698059.1:c.1295A>C	ENSP00000513538.1:p.Lys432Thr
ENST00000258104.8:c.4439A>C MANE Plus Clinical	ENSP00000258104.3:p.Lys1480Thr
ENST00000410020.8:c.4556A>C MANE Select	ENSP00000386881.3:p.Lys1519Thr
ENST00000258104.7:c.4439A>C	ENSP00000258104.3:p.Lys1480Thr
ENST00000394120.6:c.4442A>C	ENSP00000377678.2:p.Lys1481Thr
ENST00000409366.5:c.4505A>C	ENSP00000386512.1:p.Lys1502Thr
ENST00000409582.7:c.4553A>C	ENSP00000386547.3:p.Lys1518Thr
ENST00000409651.5:c.4535A>C	ENSP00000386683.1:p.Lys1512Thr
ENST00000409744.5:c.4463A>C	ENSP00000386285.1:p.Lys1488Thr
ENST00000409762.5:c.4490A>C	ENSP00000387137.1:p.Lys1497Thr
ENST00000410020.7:c.4556A>C	ENSP00000386881.3:p.Lys1519Thr
ENST00000410041.1:c.4493A>C	ENSP00000386617.1:p.Lys1498Thr
ENST00000413539.6:c.4532A>C	ENSP00000407046.2:p.Lys1511Thr
ENST00000429174.6:c.4502A>C	ENSP00000398305.2:p.Lys1501Thr
ENST00000468173.1:n.738A>C
ENST00000479049.6:n.1324A>C
NM_001130455.1:c.4442A>C	NP_001123927.1:p.Lys1481Thr
NM_001130976.1:c.4397A>C	NP_001124448.1:p.Lys1466Thr
NM_001130977.1:c.4460A>C	NP_001124449.1:p.Lys1487Thr
NM_001130978.1:c.4502A>C	NP_001124450.1:p.Lys1501Thr
NM_001130979.1:c.4532A>C	NP_001124451.1:p.Lys1511Thr
NM_001130980.1:c.4490A>C	NP_001124452.1:p.Lys1497Thr
NM_001130981.1:c.4553A>C	NP_001124453.1:p.Lys1518Thr
NM_001130982.1:c.4535A>C	NP_001124454.1:p.Lys1512Thr
NM_001130983.1:c.4505A>C	NP_001124455.1:p.Lys1502Thr
NM_001130984.1:c.4463A>C	NP_001124456.1:p.Lys1488Thr
NM_001130985.1:c.4493A>C	NP_001124457.1:p.Lys1498Thr
NM_001130986.1:c.4400A>C	NP_001124458.1:p.Lys1467Thr
NM_001130987.1:c.4556A>C	NP_001124459.1:p.Lys1519Thr
NM_003494.3:c.4439A>C	NP_003485.1:p.Lys1480Thr
XM_005264584.3:c.4598A>C	XP_005264641.1:p.Lys1533Thr
XM_005264585.3:c.4595A>C	XP_005264642.1:p.Lys1532Thr
XM_005264584.4:c.4598A>C	XP_005264641.1:p.Lys1533Thr
XM_005264585.5:c.4595A>C	XP_005264642.1:p.Lys1532Thr
XR_001738969.1:n.4756A>C
NM_001130987.2:c.4556A>C MANE Select	NP_001124459.1:p.Lys1519Thr
NM_001130455.2:c.4442A>C	NP_001123927.1:p.Lys1481Thr
NM_001130976.2:c.4397A>C	NP_001124448.1:p.Lys1466Thr
NM_001130977.2:c.4460A>C	NP_001124449.1:p.Lys1487Thr
NM_001130978.2:c.4502A>C	NP_001124450.1:p.Lys1501Thr
NM_001130979.2:c.4532A>C	NP_001124451.1:p.Lys1511Thr
NM_001130980.2:c.4490A>C	NP_001124452.1:p.Lys1497Thr
NM_001130981.2:c.4553A>C	NP_001124453.1:p.Lys1518Thr
NM_001130982.2:c.4535A>C	NP_001124454.1:p.Lys1512Thr
NM_001130983.2:c.4505A>C	NP_001124455.1:p.Lys1502Thr
NM_001130984.2:c.4463A>C	NP_001124456.1:p.Lys1488Thr
NM_001130985.2:c.4493A>C	NP_001124457.1:p.Lys1498Thr
NM_001130986.2:c.4400A>C	NP_001124458.1:p.Lys1467Thr
NM_003494.4:c.4439A>C MANE Plus Clinical	NP_003485.1:p.Lys1480Thr