Canonical Allele Identifier: CA49767013

Gene: DYSF

Linked Data

• dbSNP Id: rs1056250604
• gnomAD v2: 2-71891591-C-T
• gnomAD v3: 2-71664461-C-T
• gnomAD v4: 2-71664461-C-T
• MyVariant Identifiers: chr2:g.71891591C>T (hg19) ; chr2:g.71664461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71664461C>T , CM000664.2:g.71664461C>T	GRCh38
NC_000002.11:g.71891591C>T , CM000664.1:g.71891591C>T	GRCh37
NC_000002.10:g.71745099C>T	NCBI36
NG_008694.1:g.215839C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.2588+23C>T	ENSP00000513536.1:n.2588+23C>T
ENST00000698058.1:c.1805+23C>T	ENSP00000513537.1:n.1805+23C>T
ENST00000698059.1:c.1913+23C>T	ENSP00000513538.1:n.1913+23C>T
ENST00000258104.8:c.5057+23C>T MANE Plus Clinical	ENSP00000258104.3:n.5057+23C>T
ENST00000410020.8:c.5174+23C>T MANE Select	ENSP00000386881.3:n.5174+23C>T
ENST00000258104.7:c.5057+23C>T	ENSP00000258104.3:n.5057+23C>T
ENST00000394120.6:c.5060+23C>T	ENSP00000377678.2:n.5060+23C>T
ENST00000409366.5:c.5123+23C>T	ENSP00000386512.1:n.5123+23C>T
ENST00000409582.7:c.5171+23C>T	ENSP00000386547.3:n.5171+23C>T
ENST00000409651.5:c.5153+23C>T	ENSP00000386683.1:n.5153+23C>T
ENST00000409744.5:c.5081+23C>T	ENSP00000386285.1:n.5081+23C>T
ENST00000409762.5:c.5108+23C>T	ENSP00000387137.1:n.5108+23C>T
ENST00000410020.7:c.5174+23C>T	ENSP00000386881.3:n.5174+23C>T
ENST00000410041.1:c.5111+23C>T	ENSP00000386617.1:n.5111+23C>T
ENST00000413539.6:c.5150+23C>T	ENSP00000407046.2:n.5150+23C>T
ENST00000429174.6:c.5120+23C>T	ENSP00000398305.2:n.5120+23C>T
ENST00000479049.6:n.1942+23C>T
NM_001130455.1:c.5060+23C>T	NP_001123927.1:n.5060+23C>T
NM_001130976.1:c.5015+23C>T	NP_001124448.1:n.5015+23C>T
NM_001130977.1:c.5078+23C>T	NP_001124449.1:n.5078+23C>T
NM_001130978.1:c.5120+23C>T	NP_001124450.1:n.5120+23C>T
NM_001130979.1:c.5150+23C>T	NP_001124451.1:n.5150+23C>T
NM_001130980.1:c.5108+23C>T	NP_001124452.1:n.5108+23C>T
NM_001130981.1:c.5171+23C>T	NP_001124453.1:n.5171+23C>T
NM_001130982.1:c.5153+23C>T	NP_001124454.1:n.5153+23C>T
NM_001130983.1:c.5123+23C>T	NP_001124455.1:n.5123+23C>T
NM_001130984.1:c.5081+23C>T	NP_001124456.1:n.5081+23C>T
NM_001130985.1:c.5111+23C>T	NP_001124457.1:n.5111+23C>T
NM_001130986.1:c.5018+23C>T	NP_001124458.1:n.5018+23C>T
NM_001130987.1:c.5174+23C>T	NP_001124459.1:n.5174+23C>T
NM_003494.3:c.5057+23C>T	NP_003485.1:n.5057+23C>T
XM_005264584.3:c.5216+23C>T	XP_005264641.1:n.5216+23C>T
XM_005264585.3:c.5213+23C>T	XP_005264642.1:n.5213+23C>T
XM_005264584.4:c.5216+23C>T	XP_005264641.1:n.5216+23C>T
XM_005264585.5:c.5213+23C>T	XP_005264642.1:n.5213+23C>T
XR_001738969.1:n.5397C>T
NM_001130987.2:c.5174+23C>T MANE Select	NP_001124459.1:n.5174+23C>T
NM_001130455.2:c.5060+23C>T	NP_001123927.1:n.5060+23C>T
NM_001130976.2:c.5015+23C>T	NP_001124448.1:n.5015+23C>T
NM_001130977.2:c.5078+23C>T	NP_001124449.1:n.5078+23C>T
NM_001130978.2:c.5120+23C>T	NP_001124450.1:n.5120+23C>T
NM_001130979.2:c.5150+23C>T	NP_001124451.1:n.5150+23C>T
NM_001130980.2:c.5108+23C>T	NP_001124452.1:n.5108+23C>T
NM_001130981.2:c.5171+23C>T	NP_001124453.1:n.5171+23C>T
NM_001130982.2:c.5153+23C>T	NP_001124454.1:n.5153+23C>T
NM_001130983.2:c.5123+23C>T	NP_001124455.1:n.5123+23C>T
NM_001130984.2:c.5081+23C>T	NP_001124456.1:n.5081+23C>T
NM_001130985.2:c.5111+23C>T	NP_001124457.1:n.5111+23C>T
NM_001130986.2:c.5018+23C>T	NP_001124458.1:n.5018+23C>T
NM_003494.4:c.5057+23C>T MANE Plus Clinical	NP_003485.1:n.5057+23C>T