Canonical Allele Identifier: CA430235007

Linked Data

MyVariant Identifiers: chr2:g.179395178T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530451T>C , CM000664.2:g.178530451T>C GRCh38
NC_000002.11:g.179395178T>C , CM000664.1:g.179395178T>C GRCh37
NC_000002.10:g.179103424T>C NCBI36
NG_011618.3:g.305352A>G , LRG_391:g.305352A>G
NG_051363.1:g.12625T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98460A>G (TTN) ENSP00000343764.6:p.Lys32820=
ENST00000342175.11:c.79545A>G (TTN) ENSP00000340554.6:p.Lys26515=
ENST00000359218.10:c.79344A>G (TTN) ENSP00000352154.5:p.Lys26448=
ENST00000342175.10:c.79545A>G (TTN) ENSP00000340554.6:p.Lys26515=
ENST00000342992.10:c.98460A>G (TTN) ENSP00000343764.6:p.Lys32820=
ENST00000359218.9:c.79344A>G (TTN) ENSP00000352154.5:p.Lys26448=
ENST00000460472.6:c.78969A>G (TTN) ENSP00000434586.1:p.Lys26323=
ENST00000589042.5:c.106164A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35388=
ENST00000591111.5:c.101241A>G (TTN) ENSP00000465570.1:p.Lys33747=
ENST00000615779.4:c.101241A>G (TTN) ENSP00000483597.1:p.Lys33747=
NM_001256850.1:c.101241A>G (TTN) NP_001243779.1:p.Lys33747=
NM_001267550.2:c.106164A>G (TTN) MANE Select NP_001254479.2:p.Lys35388=
NM_003319.4:c.78969A>G (TTN) NP_003310.4:p.Lys26323=
NM_133378.4:c.98460A>G (TTN) NP_596869.4:p.Lys32820=
NM_133432.3:c.79344A>G (TTN) NP_597676.3:p.Lys26448=
NM_133437.4:c.79545A>G (TTN) NP_597681.4:p.Lys26515=
NR_038271.1:n.446+6815T>C (TTN-AS1)
NR_038272.1:n.220-5281T>C (TTN-AS1)
XM_011511729.1:c.105261A>G (TTN) XP_011510031.1:p.Lys35087=
XM_011511730.1:c.79155A>G (TTN) XP_011510032.1:p.Lys26385=
XM_011511731.1:c.79014A>G (TTN) XP_011510033.1:p.Lys26338=
XM_017004819.1:c.105057A>G (TTN) XP_016860308.1:p.Lys35019=
XM_017004820.1:c.100455A>G (TTN) XP_016860309.1:p.Lys33485=
XM_017004821.1:c.100452A>G (TTN) XP_016860310.1:p.Lys33484=
XM_017004822.1:c.97494A>G (TTN) XP_016860311.1:p.Lys32498=
XM_017004823.1:c.79110A>G (TTN) XP_016860312.1:p.Lys26370=
XM_024453094.1:c.100605A>G (TTN) XP_024308862.1:p.Lys33535=
XM_024453095.1:c.100602A>G (TTN) XP_024308863.1:p.Lys33534=
XM_024453096.1:c.100035A>G (TTN) XP_024308864.1:p.Lys33345=
XM_024453097.1:c.97377A>G (TTN) XP_024308865.1:p.Lys32459=
XM_024453098.1:c.97296A>G (TTN) XP_024308866.1:p.Lys32432=
XM_024453099.1:c.79059A>G (TTN) XP_024308867.1:p.Lys26353=
XM_024453100.1:c.68913A>G (TTN) XP_024308868.1:p.Lys22971=