Canonical Allele Identifier: CA533267530

Gene: DYSF

Linked Data

• dbSNP Id: rs1213901949
• gnomAD v2: 2-71913374-G-C
• gnomAD v3: 2-71686244-G-C
• gnomAD v4: 2-71686244-G-C
• MyVariant Identifiers: chr2:g.71913374G>C (hg19) ; chr2:g.71686244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686244G>C , CM000664.2:g.71686244G>C	GRCh38
NC_000002.11:g.71913374G>C , CM000664.1:g.71913374G>C	GRCh37
NC_000002.10:g.71766882G>C	NCBI36
NG_008694.1:g.237622G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3736-210G>C	ENSP00000513536.1:n.3736-210G>C
ENST00000698058.1:c.2953-210G>C	ENSP00000513537.1:n.2953-210G>C
ENST00000698059.1:c.3061-210G>C	ENSP00000513538.1:n.3061-210G>C
ENST00000258104.8:c.6205-210G>C MANE Plus Clinical	ENSP00000258104.3:n.6205-210G>C
ENST00000410020.8:c.6322-210G>C MANE Select	ENSP00000386881.3:n.6322-210G>C
ENST00000258104.7:c.6205-210G>C	ENSP00000258104.3:n.6205-210G>C
ENST00000394120.6:c.6208-210G>C	ENSP00000377678.2:n.6208-210G>C
ENST00000409366.5:c.6271-210G>C	ENSP00000386512.1:n.6271-210G>C
ENST00000409582.7:c.6319-210G>C	ENSP00000386547.3:n.6319-210G>C
ENST00000409651.5:c.6301-210G>C	ENSP00000386683.1:n.6301-210G>C
ENST00000409744.5:c.6229-210G>C	ENSP00000386285.1:n.6229-210G>C
ENST00000409762.5:c.6256-210G>C	ENSP00000387137.1:n.6256-210G>C
ENST00000410020.7:c.6322-210G>C	ENSP00000386881.3:n.6322-210G>C
ENST00000410041.1:c.6259-210G>C	ENSP00000386617.1:n.6259-210G>C
ENST00000413539.6:c.6298-210G>C	ENSP00000407046.2:n.6298-210G>C
ENST00000429174.6:c.6268-210G>C	ENSP00000398305.2:n.6268-210G>C
ENST00000479049.6:n.3090-210G>C
NM_001130455.1:c.6208-210G>C	NP_001123927.1:n.6208-210G>C
NM_001130976.1:c.6163-210G>C	NP_001124448.1:n.6163-210G>C
NM_001130977.1:c.6226-210G>C	NP_001124449.1:n.6226-210G>C
NM_001130978.1:c.6268-210G>C	NP_001124450.1:n.6268-210G>C
NM_001130979.1:c.6298-210G>C	NP_001124451.1:n.6298-210G>C
NM_001130980.1:c.6256-210G>C	NP_001124452.1:n.6256-210G>C
NM_001130981.1:c.6319-210G>C	NP_001124453.1:n.6319-210G>C
NM_001130982.1:c.6301-210G>C	NP_001124454.1:n.6301-210G>C
NM_001130983.1:c.6271-210G>C	NP_001124455.1:n.6271-210G>C
NM_001130984.1:c.6229-210G>C	NP_001124456.1:n.6229-210G>C
NM_001130985.1:c.6259-210G>C	NP_001124457.1:n.6259-210G>C
NM_001130986.1:c.6166-210G>C	NP_001124458.1:n.6166-210G>C
NM_001130987.1:c.6322-210G>C	NP_001124459.1:n.6322-210G>C
NM_003494.3:c.6205-210G>C	NP_003485.1:n.6205-210G>C
XM_005264584.3:c.6364-210G>C	XP_005264641.1:n.6364-210G>C
XM_005264585.3:c.6361-210G>C	XP_005264642.1:n.6361-210G>C
XM_005264584.4:c.6364-210G>C	XP_005264641.1:n.6364-210G>C
XM_005264585.5:c.6361-210G>C	XP_005264642.1:n.6361-210G>C
NM_001130987.2:c.6322-210G>C MANE Select	NP_001124459.1:n.6322-210G>C
NM_001130455.2:c.6208-210G>C	NP_001123927.1:n.6208-210G>C
NM_001130976.2:c.6163-210G>C	NP_001124448.1:n.6163-210G>C
NM_001130977.2:c.6226-210G>C	NP_001124449.1:n.6226-210G>C
NM_001130978.2:c.6268-210G>C	NP_001124450.1:n.6268-210G>C
NM_001130979.2:c.6298-210G>C	NP_001124451.1:n.6298-210G>C
NM_001130980.2:c.6256-210G>C	NP_001124452.1:n.6256-210G>C
NM_001130981.2:c.6319-210G>C	NP_001124453.1:n.6319-210G>C
NM_001130982.2:c.6301-210G>C	NP_001124454.1:n.6301-210G>C
NM_001130983.2:c.6271-210G>C	NP_001124455.1:n.6271-210G>C
NM_001130984.2:c.6229-210G>C	NP_001124456.1:n.6229-210G>C
NM_001130985.2:c.6259-210G>C	NP_001124457.1:n.6259-210G>C
NM_001130986.2:c.6166-210G>C	NP_001124458.1:n.6166-210G>C
NM_003494.4:c.6205-210G>C MANE Plus Clinical	NP_003485.1:n.6205-210G>C