Canonical Allele Identifier: CA533251333

Gene: DYSF

Linked Data

• dbSNP Id: rs1192264532
• gnomAD v2: 2-71688651-A-G
• gnomAD v3: 2-71461521-A-G
• gnomAD v4: 2-71461521-A-G
• MyVariant Identifiers: chr2:g.71688651A>G (hg19) ; chr2:g.71461521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71461521A>G , CM000664.2:g.71461521A>G	GRCh38
NC_000002.11:g.71688651A>G , CM000664.1:g.71688651A>G	GRCh37
NC_000002.10:g.71542159A>G	NCBI36
NG_008694.1:g.12899A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.88+7435A>G MANE Plus Clinical	ENSP00000258104.3:n.88+7435A>G
ENST00000258104.7:c.88+7435A>G	ENSP00000258104.3:n.88+7435A>G
ENST00000409582.7:c.88+7435A>G	ENSP00000386547.3:n.88+7435A>G
ENST00000409762.5:c.88+7435A>G	ENSP00000387137.1:n.88+7435A>G
ENST00000413539.6:c.88+7435A>G	ENSP00000407046.2:n.88+7435A>G
ENST00000429174.6:c.88+7435A>G	ENSP00000398305.2:n.88+7435A>G
NM_001130976.1:c.88+7435A>G	NP_001124448.1:n.88+7435A>G
NM_001130977.1:c.88+7435A>G	NP_001124449.1:n.88+7435A>G
NM_001130978.1:c.88+7435A>G	NP_001124450.1:n.88+7435A>G
NM_001130979.1:c.88+7435A>G	NP_001124451.1:n.88+7435A>G
NM_001130980.1:c.88+7435A>G	NP_001124452.1:n.88+7435A>G
NM_001130981.1:c.88+7435A>G	NP_001124453.1:n.88+7435A>G
NM_003494.3:c.88+7435A>G	NP_003485.1:n.88+7435A>G
XM_005264585.3:c.88+7435A>G	XP_005264642.1:n.88+7435A>G
XM_005264585.5:c.88+7435A>G	XP_005264642.1:n.88+7435A>G
NM_001130976.2:c.88+7435A>G	NP_001124448.1:n.88+7435A>G
NM_001130977.2:c.88+7435A>G	NP_001124449.1:n.88+7435A>G
NM_001130978.2:c.88+7435A>G	NP_001124450.1:n.88+7435A>G
NM_001130979.2:c.88+7435A>G	NP_001124451.1:n.88+7435A>G
NM_001130980.2:c.88+7435A>G	NP_001124452.1:n.88+7435A>G
NM_001130981.2:c.88+7435A>G	NP_001124453.1:n.88+7435A>G
NM_003494.4:c.88+7435A>G MANE Plus Clinical	NP_003485.1:n.88+7435A>G