Canonical Allele Identifier: CA426703973

Gene: DYSF

Linked Data

• gnomAD v4: 2-71664400-G-A
• MyVariant Identifiers: chr2:g.71891530G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71664400G>A , CM000664.2:g.71664400G>A	GRCh38
NC_000002.11:g.71891530G>A , CM000664.1:g.71891530G>A	GRCh37
NC_000002.10:g.71745038G>A	NCBI36
NG_008694.1:g.215778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2550G>A	ENSP00000513536.1:p.Lys850=
ENST00000698058.1:c.1767G>A	ENSP00000513537.1:p.Lys589=
ENST00000698059.1:c.1875G>A	ENSP00000513538.1:p.Lys625=
ENST00000258104.8:c.5019G>A MANE Plus Clinical	ENSP00000258104.3:p.Lys1673=
ENST00000410020.8:c.5136G>A MANE Select	ENSP00000386881.3:p.Lys1712=
ENST00000258104.7:c.5019G>A	ENSP00000258104.3:p.Lys1673=
ENST00000394120.6:c.5022G>A	ENSP00000377678.2:p.Lys1674=
ENST00000409366.5:c.5085G>A	ENSP00000386512.1:p.Lys1695=
ENST00000409582.7:c.5133G>A	ENSP00000386547.3:p.Lys1711=
ENST00000409651.5:c.5115G>A	ENSP00000386683.1:p.Lys1705=
ENST00000409744.5:c.5043G>A	ENSP00000386285.1:p.Lys1681=
ENST00000409762.5:c.5070G>A	ENSP00000387137.1:p.Lys1690=
ENST00000410020.7:c.5136G>A	ENSP00000386881.3:p.Lys1712=
ENST00000410041.1:c.5073G>A	ENSP00000386617.1:p.Lys1691=
ENST00000413539.6:c.5112G>A	ENSP00000407046.2:p.Lys1704=
ENST00000429174.6:c.5082G>A	ENSP00000398305.2:p.Lys1694=
ENST00000479049.6:n.1904G>A
NM_001130455.1:c.5022G>A	NP_001123927.1:p.Lys1674=
NM_001130976.1:c.4977G>A	NP_001124448.1:p.Lys1659=
NM_001130977.1:c.5040G>A	NP_001124449.1:p.Lys1680=
NM_001130978.1:c.5082G>A	NP_001124450.1:p.Lys1694=
NM_001130979.1:c.5112G>A	NP_001124451.1:p.Lys1704=
NM_001130980.1:c.5070G>A	NP_001124452.1:p.Lys1690=
NM_001130981.1:c.5133G>A	NP_001124453.1:p.Lys1711=
NM_001130982.1:c.5115G>A	NP_001124454.1:p.Lys1705=
NM_001130983.1:c.5085G>A	NP_001124455.1:p.Lys1695=
NM_001130984.1:c.5043G>A	NP_001124456.1:p.Lys1681=
NM_001130985.1:c.5073G>A	NP_001124457.1:p.Lys1691=
NM_001130986.1:c.4980G>A	NP_001124458.1:p.Lys1660=
NM_001130987.1:c.5136G>A	NP_001124459.1:p.Lys1712=
NM_003494.3:c.5019G>A	NP_003485.1:p.Lys1673=
XM_005264584.3:c.5178G>A	XP_005264641.1:p.Lys1726=
XM_005264585.3:c.5175G>A	XP_005264642.1:p.Lys1725=
XM_005264584.4:c.5178G>A	XP_005264641.1:p.Lys1726=
XM_005264585.5:c.5175G>A	XP_005264642.1:p.Lys1725=
XR_001738969.1:n.5336G>A
NM_001130987.2:c.5136G>A MANE Select	NP_001124459.1:p.Lys1712=
NM_001130455.2:c.5022G>A	NP_001123927.1:p.Lys1674=
NM_001130976.2:c.4977G>A	NP_001124448.1:p.Lys1659=
NM_001130977.2:c.5040G>A	NP_001124449.1:p.Lys1680=
NM_001130978.2:c.5082G>A	NP_001124450.1:p.Lys1694=
NM_001130979.2:c.5112G>A	NP_001124451.1:p.Lys1704=
NM_001130980.2:c.5070G>A	NP_001124452.1:p.Lys1690=
NM_001130981.2:c.5133G>A	NP_001124453.1:p.Lys1711=
NM_001130982.2:c.5115G>A	NP_001124454.1:p.Lys1705=
NM_001130983.2:c.5085G>A	NP_001124455.1:p.Lys1695=
NM_001130984.2:c.5043G>A	NP_001124456.1:p.Lys1681=
NM_001130985.2:c.5073G>A	NP_001124457.1:p.Lys1691=
NM_001130986.2:c.4980G>A	NP_001124458.1:p.Lys1660=
NM_003494.4:c.5019G>A MANE Plus Clinical	NP_003485.1:p.Lys1673=