Canonical Allele Identifier: CA347217430

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71778237G>C (hg19) ; chr2:g.71551107G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71551107G>C , CM000664.2:g.71551107G>C	GRCh38
NC_000002.11:g.71778237G>C , CM000664.1:g.71778237G>C	GRCh37
NC_000002.10:g.71631745G>C	NCBI36
NG_008694.1:g.102485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1589G>C MANE Plus Clinical	ENSP00000258104.3:p.Arg530Thr
ENST00000410020.8:c.1643G>C MANE Select	ENSP00000386881.3:p.Arg548Thr
ENST00000258104.7:c.1589G>C	ENSP00000258104.3:p.Arg530Thr
ENST00000394120.6:c.1592G>C	ENSP00000377678.2:p.Arg531Thr
ENST00000409366.5:c.1592G>C	ENSP00000386512.1:p.Arg531Thr
ENST00000409582.7:c.1640G>C	ENSP00000386547.3:p.Arg547Thr
ENST00000409651.5:c.1685G>C	ENSP00000386683.1:p.Arg562Thr
ENST00000409744.5:c.1550G>C	ENSP00000386285.1:p.Arg517Thr
ENST00000409762.5:c.1640G>C	ENSP00000387137.1:p.Arg547Thr
ENST00000410020.7:c.1643G>C	ENSP00000386881.3:p.Arg548Thr
ENST00000410041.1:c.1643G>C	ENSP00000386617.1:p.Arg548Thr
ENST00000413539.6:c.1682G>C	ENSP00000407046.2:p.Arg561Thr
ENST00000429174.6:c.1589G>C	ENSP00000398305.2:p.Arg530Thr
NM_001130455.1:c.1592G>C	NP_001123927.1:p.Arg531Thr
NM_001130976.1:c.1547G>C	NP_001124448.1:p.Arg516Thr
NM_001130977.1:c.1547G>C	NP_001124449.1:p.Arg516Thr
NM_001130978.1:c.1589G>C	NP_001124450.1:p.Arg530Thr
NM_001130979.1:c.1682G>C	NP_001124451.1:p.Arg561Thr
NM_001130980.1:c.1640G>C	NP_001124452.1:p.Arg547Thr
NM_001130981.1:c.1640G>C	NP_001124453.1:p.Arg547Thr
NM_001130982.1:c.1685G>C	NP_001124454.1:p.Arg562Thr
NM_001130983.1:c.1592G>C	NP_001124455.1:p.Arg531Thr
NM_001130984.1:c.1550G>C	NP_001124456.1:p.Arg517Thr
NM_001130985.1:c.1643G>C	NP_001124457.1:p.Arg548Thr
NM_001130986.1:c.1550G>C	NP_001124458.1:p.Arg517Thr
NM_001130987.1:c.1643G>C	NP_001124459.1:p.Arg548Thr
NM_003494.3:c.1589G>C	NP_003485.1:p.Arg530Thr
XM_005264584.3:c.1685G>C	XP_005264641.1:p.Arg562Thr
XM_005264585.3:c.1682G>C	XP_005264642.1:p.Arg561Thr
XM_005264584.4:c.1685G>C	XP_005264641.1:p.Arg562Thr
XM_005264585.5:c.1682G>C	XP_005264642.1:p.Arg561Thr
XR_001738969.1:n.1843G>C
NM_001130987.2:c.1643G>C MANE Select	NP_001124459.1:p.Arg548Thr
NM_001130455.2:c.1592G>C	NP_001123927.1:p.Arg531Thr
NM_001130976.2:c.1547G>C	NP_001124448.1:p.Arg516Thr
NM_001130977.2:c.1547G>C	NP_001124449.1:p.Arg516Thr
NM_001130978.2:c.1589G>C	NP_001124450.1:p.Arg530Thr
NM_001130979.2:c.1682G>C	NP_001124451.1:p.Arg561Thr
NM_001130980.2:c.1640G>C	NP_001124452.1:p.Arg547Thr
NM_001130981.2:c.1640G>C	NP_001124453.1:p.Arg547Thr
NM_001130982.2:c.1685G>C	NP_001124454.1:p.Arg562Thr
NM_001130983.2:c.1592G>C	NP_001124455.1:p.Arg531Thr
NM_001130984.2:c.1550G>C	NP_001124456.1:p.Arg517Thr
NM_001130985.2:c.1643G>C	NP_001124457.1:p.Arg548Thr
NM_001130986.2:c.1550G>C	NP_001124458.1:p.Arg517Thr
NM_003494.4:c.1589G>C MANE Plus Clinical	NP_003485.1:p.Arg530Thr