Canonical Allele Identifier: CA430235108

Linked Data

MyVariant Identifiers: chr2:g.179395034A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530307A>G , CM000664.2:g.178530307A>G GRCh38
NC_000002.11:g.179395034A>G , CM000664.1:g.179395034A>G GRCh37
NC_000002.10:g.179103280A>G NCBI36
NG_011618.3:g.305496T>C , LRG_391:g.305496T>C
NG_051363.1:g.12481A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.98604T>C (TTN) ENSP00000343764.6:p.Val32868=
ENST00000342175.11:c.79689T>C (TTN) ENSP00000340554.6:p.Val26563=
ENST00000359218.10:c.79488T>C (TTN) ENSP00000352154.5:p.Val26496=
ENST00000342175.10:c.79689T>C (TTN) ENSP00000340554.6:p.Val26563=
ENST00000342992.10:c.98604T>C (TTN) ENSP00000343764.6:p.Val32868=
ENST00000359218.9:c.79488T>C (TTN) ENSP00000352154.5:p.Val26496=
ENST00000460472.6:c.79113T>C (TTN) ENSP00000434586.1:p.Val26371=
ENST00000589042.5:c.106308T>C (TTN) MANE Select ENSP00000467141.1:p.Val35436=
ENST00000591111.5:c.101385T>C (TTN) ENSP00000465570.1:p.Val33795=
ENST00000615779.4:c.101385T>C (TTN) ENSP00000483597.1:p.Val33795=
NM_001256850.1:c.101385T>C (TTN) NP_001243779.1:p.Val33795=
NM_001267550.2:c.106308T>C (TTN) MANE Select NP_001254479.2:p.Val35436=
NM_003319.4:c.79113T>C (TTN) NP_003310.4:p.Val26371=
NM_133378.4:c.98604T>C (TTN) NP_596869.4:p.Val32868=
NM_133432.3:c.79488T>C (TTN) NP_597676.3:p.Val26496=
NM_133437.4:c.79689T>C (TTN) NP_597681.4:p.Val26563=
NR_038271.1:n.446+6671A>G (TTN-AS1)
NR_038272.1:n.220-5425A>G (TTN-AS1)
XM_011511729.1:c.105405T>C (TTN) XP_011510031.1:p.Val35135=
XM_011511730.1:c.79299T>C (TTN) XP_011510032.1:p.Val26433=
XM_011511731.1:c.79158T>C (TTN) XP_011510033.1:p.Val26386=
XM_017004819.1:c.105201T>C (TTN) XP_016860308.1:p.Val35067=
XM_017004820.1:c.100599T>C (TTN) XP_016860309.1:p.Val33533=
XM_017004821.1:c.100596T>C (TTN) XP_016860310.1:p.Val33532=
XM_017004822.1:c.97638T>C (TTN) XP_016860311.1:p.Val32546=
XM_017004823.1:c.79254T>C (TTN) XP_016860312.1:p.Val26418=
XM_024453094.1:c.100749T>C (TTN) XP_024308862.1:p.Val33583=
XM_024453095.1:c.100746T>C (TTN) XP_024308863.1:p.Val33582=
XM_024453096.1:c.100179T>C (TTN) XP_024308864.1:p.Val33393=
XM_024453097.1:c.97521T>C (TTN) XP_024308865.1:p.Val32507=
XM_024453098.1:c.97440T>C (TTN) XP_024308866.1:p.Val32480=
XM_024453099.1:c.79203T>C (TTN) XP_024308867.1:p.Val26401=
XM_024453100.1:c.69057T>C (TTN) XP_024308868.1:p.Val23019=