Canonical Allele Identifier: CA430235488

Linked Data

MyVariant Identifiers: chr2:g.179395319G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530592G>C , CM000664.2:g.178530592G>C GRCh38
NC_000002.11:g.179395319G>C , CM000664.1:g.179395319G>C GRCh37
NC_000002.10:g.179103565G>C NCBI36
NG_011618.3:g.305211C>G , LRG_391:g.305211C>G
NG_051363.1:g.12766G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98319C>G (TTN) ENSP00000343764.6:p.Thr32773=
ENST00000342175.11:c.79404C>G (TTN) ENSP00000340554.6:p.Thr26468=
ENST00000359218.10:c.79203C>G (TTN) ENSP00000352154.5:p.Thr26401=
ENST00000342175.10:c.79404C>G (TTN) ENSP00000340554.6:p.Thr26468=
ENST00000342992.10:c.98319C>G (TTN) ENSP00000343764.6:p.Thr32773=
ENST00000359218.9:c.79203C>G (TTN) ENSP00000352154.5:p.Thr26401=
ENST00000460472.6:c.78828C>G (TTN) ENSP00000434586.1:p.Thr26276=
ENST00000589042.5:c.106023C>G (TTN) MANE Select ENSP00000467141.1:p.Thr35341=
ENST00000591111.5:c.101100C>G (TTN) ENSP00000465570.1:p.Thr33700=
ENST00000615779.4:c.101100C>G (TTN) ENSP00000483597.1:p.Thr33700=
NM_001256850.1:c.101100C>G (TTN) NP_001243779.1:p.Thr33700=
NM_001267550.2:c.106023C>G (TTN) MANE Select NP_001254479.2:p.Thr35341=
NM_003319.4:c.78828C>G (TTN) NP_003310.4:p.Thr26276=
NM_133378.4:c.98319C>G (TTN) NP_596869.4:p.Thr32773=
NM_133432.3:c.79203C>G (TTN) NP_597676.3:p.Thr26401=
NM_133437.4:c.79404C>G (TTN) NP_597681.4:p.Thr26468=
NR_038271.1:n.446+6956G>C (TTN-AS1)
NR_038272.1:n.220-5140G>C (TTN-AS1)
XM_011511729.1:c.105120C>G (TTN) XP_011510031.1:p.Thr35040=
XM_011511730.1:c.79014C>G (TTN) XP_011510032.1:p.Thr26338=
XM_011511731.1:c.78873C>G (TTN) XP_011510033.1:p.Thr26291=
XM_017004819.1:c.104916C>G (TTN) XP_016860308.1:p.Thr34972=
XM_017004820.1:c.100314C>G (TTN) XP_016860309.1:p.Thr33438=
XM_017004821.1:c.100311C>G (TTN) XP_016860310.1:p.Thr33437=
XM_017004822.1:c.97353C>G (TTN) XP_016860311.1:p.Thr32451=
XM_017004823.1:c.78969C>G (TTN) XP_016860312.1:p.Thr26323=
XM_024453094.1:c.100464C>G (TTN) XP_024308862.1:p.Thr33488=
XM_024453095.1:c.100461C>G (TTN) XP_024308863.1:p.Thr33487=
XM_024453096.1:c.99894C>G (TTN) XP_024308864.1:p.Thr33298=
XM_024453097.1:c.97236C>G (TTN) XP_024308865.1:p.Thr32412=
XM_024453098.1:c.97155C>G (TTN) XP_024308866.1:p.Thr32385=
XM_024453099.1:c.78918C>G (TTN) XP_024308867.1:p.Thr26306=
XM_024453100.1:c.68772C>G (TTN) XP_024308868.1:p.Thr22924=