Canonical Allele Identifier: CA347218052

Gene: DYSF

Linked Data

• MyVariant Identifiers: chr2:g.71871175G>C (hg19) ; chr2:g.71644045G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71644045G>C , CM000664.2:g.71644045G>C	GRCh38
NC_000002.11:g.71871175G>C , CM000664.1:g.71871175G>C	GRCh37
NC_000002.10:g.71724683G>C	NCBI36
NG_008694.1:g.195423G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2022G>C	ENSP00000513536.1:p.Lys674Asn
ENST00000698058.1:c.1239G>C	ENSP00000513537.1:p.Lys413Asn
ENST00000698059.1:c.1347G>C	ENSP00000513538.1:p.Lys449Asn
ENST00000258104.8:c.4491G>C MANE Plus Clinical	ENSP00000258104.3:p.Lys1497Asn
ENST00000410020.8:c.4608G>C MANE Select	ENSP00000386881.3:p.Lys1536Asn
ENST00000258104.7:c.4491G>C	ENSP00000258104.3:p.Lys1497Asn
ENST00000394120.6:c.4494G>C	ENSP00000377678.2:p.Lys1498Asn
ENST00000409366.5:c.4557G>C	ENSP00000386512.1:p.Lys1519Asn
ENST00000409582.7:c.4605G>C	ENSP00000386547.3:p.Lys1535Asn
ENST00000409651.5:c.4587G>C	ENSP00000386683.1:p.Lys1529Asn
ENST00000409744.5:c.4515G>C	ENSP00000386285.1:p.Lys1505Asn
ENST00000409762.5:c.4542G>C	ENSP00000387137.1:p.Lys1514Asn
ENST00000410020.7:c.4608G>C	ENSP00000386881.3:p.Lys1536Asn
ENST00000410041.1:c.4545G>C	ENSP00000386617.1:p.Lys1515Asn
ENST00000413539.6:c.4584G>C	ENSP00000407046.2:p.Lys1528Asn
ENST00000429174.6:c.4554G>C	ENSP00000398305.2:p.Lys1518Asn
ENST00000479049.6:n.1376G>C
NM_001130455.1:c.4494G>C	NP_001123927.1:p.Lys1498Asn
NM_001130976.1:c.4449G>C	NP_001124448.1:p.Lys1483Asn
NM_001130977.1:c.4512G>C	NP_001124449.1:p.Lys1504Asn
NM_001130978.1:c.4554G>C	NP_001124450.1:p.Lys1518Asn
NM_001130979.1:c.4584G>C	NP_001124451.1:p.Lys1528Asn
NM_001130980.1:c.4542G>C	NP_001124452.1:p.Lys1514Asn
NM_001130981.1:c.4605G>C	NP_001124453.1:p.Lys1535Asn
NM_001130982.1:c.4587G>C	NP_001124454.1:p.Lys1529Asn
NM_001130983.1:c.4557G>C	NP_001124455.1:p.Lys1519Asn
NM_001130984.1:c.4515G>C	NP_001124456.1:p.Lys1505Asn
NM_001130985.1:c.4545G>C	NP_001124457.1:p.Lys1515Asn
NM_001130986.1:c.4452G>C	NP_001124458.1:p.Lys1484Asn
NM_001130987.1:c.4608G>C	NP_001124459.1:p.Lys1536Asn
NM_003494.3:c.4491G>C	NP_003485.1:p.Lys1497Asn
XM_005264584.3:c.4650G>C	XP_005264641.1:p.Lys1550Asn
XM_005264585.3:c.4647G>C	XP_005264642.1:p.Lys1549Asn
XM_005264584.4:c.4650G>C	XP_005264641.1:p.Lys1550Asn
XM_005264585.5:c.4647G>C	XP_005264642.1:p.Lys1549Asn
XR_001738969.1:n.4808G>C
NM_001130987.2:c.4608G>C MANE Select	NP_001124459.1:p.Lys1536Asn
NM_001130455.2:c.4494G>C	NP_001123927.1:p.Lys1498Asn
NM_001130976.2:c.4449G>C	NP_001124448.1:p.Lys1483Asn
NM_001130977.2:c.4512G>C	NP_001124449.1:p.Lys1504Asn
NM_001130978.2:c.4554G>C	NP_001124450.1:p.Lys1518Asn
NM_001130979.2:c.4584G>C	NP_001124451.1:p.Lys1528Asn
NM_001130980.2:c.4542G>C	NP_001124452.1:p.Lys1514Asn
NM_001130981.2:c.4605G>C	NP_001124453.1:p.Lys1535Asn
NM_001130982.2:c.4587G>C	NP_001124454.1:p.Lys1529Asn
NM_001130983.2:c.4557G>C	NP_001124455.1:p.Lys1519Asn
NM_001130984.2:c.4515G>C	NP_001124456.1:p.Lys1505Asn
NM_001130985.2:c.4545G>C	NP_001124457.1:p.Lys1515Asn
NM_001130986.2:c.4452G>C	NP_001124458.1:p.Lys1484Asn
NM_003494.4:c.4491G>C MANE Plus Clinical	NP_003485.1:p.Lys1497Asn