Canonical Allele Identifier: CA430235197

Linked Data

MyVariant Identifiers: chr2:g.179395079T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530352T>C , CM000664.2:g.178530352T>C GRCh38
NC_000002.11:g.179395079T>C , CM000664.1:g.179395079T>C GRCh37
NC_000002.10:g.179103325T>C NCBI36
NG_011618.3:g.305451A>G , LRG_391:g.305451A>G
NG_051363.1:g.12526T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98559A>G (TTN) ENSP00000343764.6:p.Val32853=
ENST00000342175.11:c.79644A>G (TTN) ENSP00000340554.6:p.Val26548=
ENST00000359218.10:c.79443A>G (TTN) ENSP00000352154.5:p.Val26481=
ENST00000342175.10:c.79644A>G (TTN) ENSP00000340554.6:p.Val26548=
ENST00000342992.10:c.98559A>G (TTN) ENSP00000343764.6:p.Val32853=
ENST00000359218.9:c.79443A>G (TTN) ENSP00000352154.5:p.Val26481=
ENST00000460472.6:c.79068A>G (TTN) ENSP00000434586.1:p.Val26356=
ENST00000589042.5:c.106263A>G (TTN) MANE Select ENSP00000467141.1:p.Val35421=
ENST00000591111.5:c.101340A>G (TTN) ENSP00000465570.1:p.Val33780=
ENST00000615779.4:c.101340A>G (TTN) ENSP00000483597.1:p.Val33780=
NM_001256850.1:c.101340A>G (TTN) NP_001243779.1:p.Val33780=
NM_001267550.2:c.106263A>G (TTN) MANE Select NP_001254479.2:p.Val35421=
NM_003319.4:c.79068A>G (TTN) NP_003310.4:p.Val26356=
NM_133378.4:c.98559A>G (TTN) NP_596869.4:p.Val32853=
NM_133432.3:c.79443A>G (TTN) NP_597676.3:p.Val26481=
NM_133437.4:c.79644A>G (TTN) NP_597681.4:p.Val26548=
NR_038271.1:n.446+6716T>C (TTN-AS1)
NR_038272.1:n.220-5380T>C (TTN-AS1)
XM_011511729.1:c.105360A>G (TTN) XP_011510031.1:p.Val35120=
XM_011511730.1:c.79254A>G (TTN) XP_011510032.1:p.Val26418=
XM_011511731.1:c.79113A>G (TTN) XP_011510033.1:p.Val26371=
XM_017004819.1:c.105156A>G (TTN) XP_016860308.1:p.Val35052=
XM_017004820.1:c.100554A>G (TTN) XP_016860309.1:p.Val33518=
XM_017004821.1:c.100551A>G (TTN) XP_016860310.1:p.Val33517=
XM_017004822.1:c.97593A>G (TTN) XP_016860311.1:p.Val32531=
XM_017004823.1:c.79209A>G (TTN) XP_016860312.1:p.Val26403=
XM_024453094.1:c.100704A>G (TTN) XP_024308862.1:p.Val33568=
XM_024453095.1:c.100701A>G (TTN) XP_024308863.1:p.Val33567=
XM_024453096.1:c.100134A>G (TTN) XP_024308864.1:p.Val33378=
XM_024453097.1:c.97476A>G (TTN) XP_024308865.1:p.Val32492=
XM_024453098.1:c.97395A>G (TTN) XP_024308866.1:p.Val32465=
XM_024453099.1:c.79158A>G (TTN) XP_024308867.1:p.Val26386=
XM_024453100.1:c.69012A>G (TTN) XP_024308868.1:p.Val23004=