Canonical Allele Identifier: CA430235019

Linked Data

MyVariant Identifiers: chr2:g.179395184T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530457T>C , CM000664.2:g.178530457T>C GRCh38
NC_000002.11:g.179395184T>C , CM000664.1:g.179395184T>C GRCh37
NC_000002.10:g.179103430T>C NCBI36
NG_011618.3:g.305346A>G , LRG_391:g.305346A>G
NG_051363.1:g.12631T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98454A>G (TTN) ENSP00000343764.6:p.Val32818=
ENST00000342175.11:c.79539A>G (TTN) ENSP00000340554.6:p.Val26513=
ENST00000359218.10:c.79338A>G (TTN) ENSP00000352154.5:p.Val26446=
ENST00000342175.10:c.79539A>G (TTN) ENSP00000340554.6:p.Val26513=
ENST00000342992.10:c.98454A>G (TTN) ENSP00000343764.6:p.Val32818=
ENST00000359218.9:c.79338A>G (TTN) ENSP00000352154.5:p.Val26446=
ENST00000460472.6:c.78963A>G (TTN) ENSP00000434586.1:p.Val26321=
ENST00000589042.5:c.106158A>G (TTN) MANE Select ENSP00000467141.1:p.Val35386=
ENST00000591111.5:c.101235A>G (TTN) ENSP00000465570.1:p.Val33745=
ENST00000615779.4:c.101235A>G (TTN) ENSP00000483597.1:p.Val33745=
NM_001256850.1:c.101235A>G (TTN) NP_001243779.1:p.Val33745=
NM_001267550.2:c.106158A>G (TTN) MANE Select NP_001254479.2:p.Val35386=
NM_003319.4:c.78963A>G (TTN) NP_003310.4:p.Val26321=
NM_133378.4:c.98454A>G (TTN) NP_596869.4:p.Val32818=
NM_133432.3:c.79338A>G (TTN) NP_597676.3:p.Val26446=
NM_133437.4:c.79539A>G (TTN) NP_597681.4:p.Val26513=
NR_038271.1:n.446+6821T>C (TTN-AS1)
NR_038272.1:n.220-5275T>C (TTN-AS1)
XM_011511729.1:c.105255A>G (TTN) XP_011510031.1:p.Val35085=
XM_011511730.1:c.79149A>G (TTN) XP_011510032.1:p.Val26383=
XM_011511731.1:c.79008A>G (TTN) XP_011510033.1:p.Val26336=
XM_017004819.1:c.105051A>G (TTN) XP_016860308.1:p.Val35017=
XM_017004820.1:c.100449A>G (TTN) XP_016860309.1:p.Val33483=
XM_017004821.1:c.100446A>G (TTN) XP_016860310.1:p.Val33482=
XM_017004822.1:c.97488A>G (TTN) XP_016860311.1:p.Val32496=
XM_017004823.1:c.79104A>G (TTN) XP_016860312.1:p.Val26368=
XM_024453094.1:c.100599A>G (TTN) XP_024308862.1:p.Val33533=
XM_024453095.1:c.100596A>G (TTN) XP_024308863.1:p.Val33532=
XM_024453096.1:c.100029A>G (TTN) XP_024308864.1:p.Val33343=
XM_024453097.1:c.97371A>G (TTN) XP_024308865.1:p.Val32457=
XM_024453098.1:c.97290A>G (TTN) XP_024308866.1:p.Val32430=
XM_024453099.1:c.79053A>G (TTN) XP_024308867.1:p.Val26351=
XM_024453100.1:c.68907A>G (TTN) XP_024308868.1:p.Val22969=