Canonical Allele Identifier: CA430235317

Linked Data

MyVariant Identifiers: chr2:g.179395145G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530418G>C , CM000664.2:g.178530418G>C GRCh38
NC_000002.11:g.179395145G>C , CM000664.1:g.179395145G>C GRCh37
NC_000002.10:g.179103391G>C NCBI36
NG_011618.3:g.305385C>G , LRG_391:g.305385C>G
NG_051363.1:g.12592G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98493C>G (TTN) ENSP00000343764.6:p.Thr32831=
ENST00000342175.11:c.79578C>G (TTN) ENSP00000340554.6:p.Thr26526=
ENST00000359218.10:c.79377C>G (TTN) ENSP00000352154.5:p.Thr26459=
ENST00000342175.10:c.79578C>G (TTN) ENSP00000340554.6:p.Thr26526=
ENST00000342992.10:c.98493C>G (TTN) ENSP00000343764.6:p.Thr32831=
ENST00000359218.9:c.79377C>G (TTN) ENSP00000352154.5:p.Thr26459=
ENST00000460472.6:c.79002C>G (TTN) ENSP00000434586.1:p.Thr26334=
ENST00000589042.5:c.106197C>G (TTN) MANE Select ENSP00000467141.1:p.Thr35399=
ENST00000591111.5:c.101274C>G (TTN) ENSP00000465570.1:p.Thr33758=
ENST00000615779.4:c.101274C>G (TTN) ENSP00000483597.1:p.Thr33758=
NM_001256850.1:c.101274C>G (TTN) NP_001243779.1:p.Thr33758=
NM_001267550.2:c.106197C>G (TTN) MANE Select NP_001254479.2:p.Thr35399=
NM_003319.4:c.79002C>G (TTN) NP_003310.4:p.Thr26334=
NM_133378.4:c.98493C>G (TTN) NP_596869.4:p.Thr32831=
NM_133432.3:c.79377C>G (TTN) NP_597676.3:p.Thr26459=
NM_133437.4:c.79578C>G (TTN) NP_597681.4:p.Thr26526=
NR_038271.1:n.446+6782G>C (TTN-AS1)
NR_038272.1:n.220-5314G>C (TTN-AS1)
XM_011511729.1:c.105294C>G (TTN) XP_011510031.1:p.Thr35098=
XM_011511730.1:c.79188C>G (TTN) XP_011510032.1:p.Thr26396=
XM_011511731.1:c.79047C>G (TTN) XP_011510033.1:p.Thr26349=
XM_017004819.1:c.105090C>G (TTN) XP_016860308.1:p.Thr35030=
XM_017004820.1:c.100488C>G (TTN) XP_016860309.1:p.Thr33496=
XM_017004821.1:c.100485C>G (TTN) XP_016860310.1:p.Thr33495=
XM_017004822.1:c.97527C>G (TTN) XP_016860311.1:p.Thr32509=
XM_017004823.1:c.79143C>G (TTN) XP_016860312.1:p.Thr26381=
XM_024453094.1:c.100638C>G (TTN) XP_024308862.1:p.Thr33546=
XM_024453095.1:c.100635C>G (TTN) XP_024308863.1:p.Thr33545=
XM_024453096.1:c.100068C>G (TTN) XP_024308864.1:p.Thr33356=
XM_024453097.1:c.97410C>G (TTN) XP_024308865.1:p.Thr32470=
XM_024453098.1:c.97329C>G (TTN) XP_024308866.1:p.Thr32443=
XM_024453099.1:c.79092C>G (TTN) XP_024308867.1:p.Thr26364=
XM_024453100.1:c.68946C>G (TTN) XP_024308868.1:p.Thr22982=