Canonical Allele Identifier: CA1705967

Gene: DYSF

Linked Data

• ClinVar Variation Id: 2189797
• ClinVar RCV Id: RCV002611827
• dbSNP Id: rs775055299
• ExAC: 2:71780166 C / T
• gnomAD v2: 2-71780166-C-T
• gnomAD v3: 2-71553036-C-T
• gnomAD v4: 2-71553036-C-T
• MyVariant Identifiers: chr2:g.71780166C>T (hg19) ; chr2:g.71553036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71553036C>T , CM000664.2:g.71553036C>T	GRCh38
NC_000002.11:g.71780166C>T , CM000664.1:g.71780166C>T	GRCh37
NC_000002.10:g.71633674C>T	NCBI36
NG_008694.1:g.104414C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.1778C>T MANE Plus Clinical	ENSP00000258104.3:p.Ser593Phe
ENST00000410020.8:c.1832C>T MANE Select	ENSP00000386881.3:p.Ser611Phe
ENST00000258104.7:c.1778C>T	ENSP00000258104.3:p.Ser593Phe
ENST00000394120.6:c.1781C>T	ENSP00000377678.2:p.Ser594Phe
ENST00000409366.5:c.1781C>T	ENSP00000386512.1:p.Ser594Phe
ENST00000409582.7:c.1829C>T	ENSP00000386547.3:p.Ser610Phe
ENST00000409651.5:c.1874C>T	ENSP00000386683.1:p.Ser625Phe
ENST00000409744.5:c.1739C>T	ENSP00000386285.1:p.Ser580Phe
ENST00000409762.5:c.1829C>T	ENSP00000387137.1:p.Ser610Phe
ENST00000410020.7:c.1832C>T	ENSP00000386881.3:p.Ser611Phe
ENST00000410041.1:c.1832C>T	ENSP00000386617.1:p.Ser611Phe
ENST00000413539.6:c.1871C>T	ENSP00000407046.2:p.Ser624Phe
ENST00000429174.6:c.1778C>T	ENSP00000398305.2:p.Ser593Phe
NM_001130455.1:c.1781C>T	NP_001123927.1:p.Ser594Phe
NM_001130976.1:c.1736C>T	NP_001124448.1:p.Ser579Phe
NM_001130977.1:c.1736C>T	NP_001124449.1:p.Ser579Phe
NM_001130978.1:c.1778C>T	NP_001124450.1:p.Ser593Phe
NM_001130979.1:c.1871C>T	NP_001124451.1:p.Ser624Phe
NM_001130980.1:c.1829C>T	NP_001124452.1:p.Ser610Phe
NM_001130981.1:c.1829C>T	NP_001124453.1:p.Ser610Phe
NM_001130982.1:c.1874C>T	NP_001124454.1:p.Ser625Phe
NM_001130983.1:c.1781C>T	NP_001124455.1:p.Ser594Phe
NM_001130984.1:c.1739C>T	NP_001124456.1:p.Ser580Phe
NM_001130985.1:c.1832C>T	NP_001124457.1:p.Ser611Phe
NM_001130986.1:c.1739C>T	NP_001124458.1:p.Ser580Phe
NM_001130987.1:c.1832C>T	NP_001124459.1:p.Ser611Phe
NM_003494.3:c.1778C>T	NP_003485.1:p.Ser593Phe
XM_005264584.3:c.1874C>T	XP_005264641.1:p.Ser625Phe
XM_005264585.3:c.1871C>T	XP_005264642.1:p.Ser624Phe
XM_005264584.4:c.1874C>T	XP_005264641.1:p.Ser625Phe
XM_005264585.5:c.1871C>T	XP_005264642.1:p.Ser624Phe
XR_001738969.1:n.2032C>T
NM_001130987.2:c.1832C>T MANE Select	NP_001124459.1:p.Ser611Phe
NM_001130455.2:c.1781C>T	NP_001123927.1:p.Ser594Phe
NM_001130976.2:c.1736C>T	NP_001124448.1:p.Ser579Phe
NM_001130977.2:c.1736C>T	NP_001124449.1:p.Ser579Phe
NM_001130978.2:c.1778C>T	NP_001124450.1:p.Ser593Phe
NM_001130979.2:c.1871C>T	NP_001124451.1:p.Ser624Phe
NM_001130980.2:c.1829C>T	NP_001124452.1:p.Ser610Phe
NM_001130981.2:c.1829C>T	NP_001124453.1:p.Ser610Phe
NM_001130982.2:c.1874C>T	NP_001124454.1:p.Ser625Phe
NM_001130983.2:c.1781C>T	NP_001124455.1:p.Ser594Phe
NM_001130984.2:c.1739C>T	NP_001124456.1:p.Ser580Phe
NM_001130985.2:c.1832C>T	NP_001124457.1:p.Ser611Phe
NM_001130986.2:c.1739C>T	NP_001124458.1:p.Ser580Phe
NM_003494.4:c.1778C>T MANE Plus Clinical	NP_003485.1:p.Ser593Phe