Canonical Allele Identifier: CA1706423

Gene: DYSF

Linked Data

• ClinVar Variation Id: 471294
• ClinVar RCV Id: RCV000548061 ; RCV001829588
• dbSNP Id: rs768787171
• ExAC: 2:71797745 C / G
• gnomAD v2: 2-71797745-C-G
• gnomAD v3: 2-71570615-C-G
• gnomAD v4: 2-71570615-C-G
• MyVariant Identifiers: chr2:g.71797745C>G (hg19) ; chr2:g.71570615C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570615C>G , CM000664.2:g.71570615C>G	GRCh38
NC_000002.11:g.71797745C>G , CM000664.1:g.71797745C>G	GRCh37
NC_000002.10:g.71651253C>G	NCBI36
NG_008694.1:g.121993C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.474C>G	ENSP00000513536.1:p.Ile158Met
ENST00000258104.8:c.3048C>G MANE Plus Clinical	ENSP00000258104.3:p.Ile1016Met
ENST00000410020.8:c.3102C>G MANE Select	ENSP00000386881.3:p.Ile1034Met
ENST00000258104.7:c.3048C>G	ENSP00000258104.3:p.Ile1016Met
ENST00000394120.6:c.3051C>G	ENSP00000377678.2:p.Ile1017Met
ENST00000409366.5:c.3051C>G	ENSP00000386512.1:p.Ile1017Met
ENST00000409582.7:c.3099C>G	ENSP00000386547.3:p.Ile1033Met
ENST00000409651.5:c.3144C>G	ENSP00000386683.1:p.Ile1048Met
ENST00000409744.5:c.3009C>G	ENSP00000386285.1:p.Ile1003Met
ENST00000409762.5:c.3099C>G	ENSP00000387137.1:p.Ile1033Met
ENST00000410020.7:c.3102C>G	ENSP00000386881.3:p.Ile1034Met
ENST00000410041.1:c.3102C>G	ENSP00000386617.1:p.Ile1034Met
ENST00000413539.6:c.3141C>G	ENSP00000407046.2:p.Ile1047Met
ENST00000429174.6:c.3048C>G	ENSP00000398305.2:p.Ile1016Met
ENST00000461565.1:n.214C>G
NM_001130455.1:c.3051C>G	NP_001123927.1:p.Ile1017Met
NM_001130976.1:c.3006C>G	NP_001124448.1:p.Ile1002Met
NM_001130977.1:c.3006C>G	NP_001124449.1:p.Ile1002Met
NM_001130978.1:c.3048C>G	NP_001124450.1:p.Ile1016Met
NM_001130979.1:c.3141C>G	NP_001124451.1:p.Ile1047Met
NM_001130980.1:c.3099C>G	NP_001124452.1:p.Ile1033Met
NM_001130981.1:c.3099C>G	NP_001124453.1:p.Ile1033Met
NM_001130982.1:c.3144C>G	NP_001124454.1:p.Ile1048Met
NM_001130983.1:c.3051C>G	NP_001124455.1:p.Ile1017Met
NM_001130984.1:c.3009C>G	NP_001124456.1:p.Ile1003Met
NM_001130985.1:c.3102C>G	NP_001124457.1:p.Ile1034Met
NM_001130986.1:c.3009C>G	NP_001124458.1:p.Ile1003Met
NM_001130987.1:c.3102C>G	NP_001124459.1:p.Ile1034Met
NM_003494.3:c.3048C>G	NP_003485.1:p.Ile1016Met
XM_005264584.3:c.3144C>G	XP_005264641.1:p.Ile1048Met
XM_005264585.3:c.3141C>G	XP_005264642.1:p.Ile1047Met
XM_005264584.4:c.3144C>G	XP_005264641.1:p.Ile1048Met
XM_005264585.5:c.3141C>G	XP_005264642.1:p.Ile1047Met
XR_001738969.1:n.3302C>G
NM_001130987.2:c.3102C>G MANE Select	NP_001124459.1:p.Ile1034Met
NM_001130455.2:c.3051C>G	NP_001123927.1:p.Ile1017Met
NM_001130976.2:c.3006C>G	NP_001124448.1:p.Ile1002Met
NM_001130977.2:c.3006C>G	NP_001124449.1:p.Ile1002Met
NM_001130978.2:c.3048C>G	NP_001124450.1:p.Ile1016Met
NM_001130979.2:c.3141C>G	NP_001124451.1:p.Ile1047Met
NM_001130980.2:c.3099C>G	NP_001124452.1:p.Ile1033Met
NM_001130981.2:c.3099C>G	NP_001124453.1:p.Ile1033Met
NM_001130982.2:c.3144C>G	NP_001124454.1:p.Ile1048Met
NM_001130983.2:c.3051C>G	NP_001124455.1:p.Ile1017Met
NM_001130984.2:c.3009C>G	NP_001124456.1:p.Ile1003Met
NM_001130985.2:c.3102C>G	NP_001124457.1:p.Ile1034Met
NM_001130986.2:c.3009C>G	NP_001124458.1:p.Ile1003Met
NM_003494.4:c.3048C>G MANE Plus Clinical	NP_003485.1:p.Ile1016Met