Canonical Allele Identifier: CA430240522

Linked Data

MyVariant Identifiers: chr2:g.179404686A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539959A>C , CM000664.2:g.178539959A>C GRCh38
NC_000002.11:g.179404686A>C , CM000664.1:g.179404686A>C GRCh37
NC_000002.10:g.179112932A>C NCBI36
NG_011618.3:g.295844T>G , LRG_391:g.295844T>G
NG_051363.1:g.22133A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90402T>G (TTN) ENSP00000343764.6:p.Pro30134=
ENST00000342175.11:c.71487T>G (TTN) ENSP00000340554.6:p.Pro23829=
ENST00000359218.10:c.71286T>G (TTN) ENSP00000352154.5:p.Pro23762=
ENST00000342175.10:c.71487T>G (TTN) ENSP00000340554.6:p.Pro23829=
ENST00000342992.10:c.90402T>G (TTN) ENSP00000343764.6:p.Pro30134=
ENST00000359218.9:c.71286T>G (TTN) ENSP00000352154.5:p.Pro23762=
ENST00000460472.6:c.70911T>G (TTN) ENSP00000434586.1:p.Pro23637=
ENST00000589042.5:c.98106T>G (TTN) MANE Select ENSP00000467141.1:p.Pro32702=
ENST00000591111.5:c.93183T>G (TTN) ENSP00000465570.1:p.Pro31061=
ENST00000615779.4:c.93183T>G (TTN) ENSP00000483597.1:p.Pro31061=
NM_001256850.1:c.93183T>G (TTN) NP_001243779.1:p.Pro31061=
NM_001267550.2:c.98106T>G (TTN) MANE Select NP_001254479.2:p.Pro32702=
NM_003319.4:c.70911T>G (TTN) NP_003310.4:p.Pro23637=
NM_133378.4:c.90402T>G (TTN) NP_596869.4:p.Pro30134=
NM_133432.3:c.71286T>G (TTN) NP_597676.3:p.Pro23762=
NM_133437.4:c.71487T>G (TTN) NP_597681.4:p.Pro23829=
NR_038271.1:n.446+16323A>C (TTN-AS1)
NR_038272.1:n.1840+69A>C (TTN-AS1)
XM_011511729.1:c.97203T>G (TTN) XP_011510031.1:p.Pro32401=
XM_011511730.1:c.71097T>G (TTN) XP_011510032.1:p.Pro23699=
XM_011511731.1:c.70956T>G (TTN) XP_011510033.1:p.Pro23652=
XM_017004819.1:c.96999T>G (TTN) XP_016860308.1:p.Pro32333=
XM_017004820.1:c.92397T>G (TTN) XP_016860309.1:p.Pro30799=
XM_017004821.1:c.92394T>G (TTN) XP_016860310.1:p.Pro30798=
XM_017004822.1:c.89436T>G (TTN) XP_016860311.1:p.Pro29812=
XM_017004823.1:c.71052T>G (TTN) XP_016860312.1:p.Pro23684=
XM_024453094.1:c.92547T>G (TTN) XP_024308862.1:p.Pro30849=
XM_024453095.1:c.92544T>G (TTN) XP_024308863.1:p.Pro30848=
XM_024453096.1:c.91977T>G (TTN) XP_024308864.1:p.Pro30659=
XM_024453097.1:c.89319T>G (TTN) XP_024308865.1:p.Pro29773=
XM_024453098.1:c.89238T>G (TTN) XP_024308866.1:p.Pro29746=
XM_024453099.1:c.71001T>G (TTN) XP_024308867.1:p.Pro23667=
XM_024453100.1:c.60855T>G (TTN) XP_024308868.1:p.Pro20285=