Canonical Allele Identifier: CA430244847

Linked Data

MyVariant Identifiers: chr2:g.179414550A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549823A>C , CM000664.2:g.178549823A>C GRCh38
NC_000002.11:g.179414550A>C , CM000664.1:g.179414550A>C GRCh37
NC_000002.10:g.179122796A>C NCBI36
NG_011618.3:g.285980T>G , LRG_391:g.285980T>G
NG_051363.1:g.31997A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84195T>G (TTN) ENSP00000343764.6:p.Thr28065=
ENST00000342175.11:c.65280T>G (TTN) ENSP00000340554.6:p.Thr21760=
ENST00000359218.10:c.65079T>G (TTN) ENSP00000352154.5:p.Thr21693=
ENST00000342175.10:c.65280T>G (TTN) ENSP00000340554.6:p.Thr21760=
ENST00000342992.10:c.84195T>G (TTN) ENSP00000343764.6:p.Thr28065=
ENST00000359218.9:c.65079T>G (TTN) ENSP00000352154.5:p.Thr21693=
ENST00000460472.6:c.64704T>G (TTN) ENSP00000434586.1:p.Thr21568=
ENST00000589042.5:c.91899T>G (TTN) MANE Select ENSP00000467141.1:p.Thr30633=
ENST00000591111.5:c.86976T>G (TTN) ENSP00000465570.1:p.Thr28992=
ENST00000615779.4:c.86976T>G (TTN) ENSP00000483597.1:p.Thr28992=
NM_001256850.1:c.86976T>G (TTN) NP_001243779.1:p.Thr28992=
NM_001267550.2:c.91899T>G (TTN) MANE Select NP_001254479.2:p.Thr30633=
NM_003319.4:c.64704T>G (TTN) NP_003310.4:p.Thr21568=
NM_133378.4:c.84195T>G (TTN) NP_596869.4:p.Thr28065=
NM_133432.3:c.65079T>G (TTN) NP_597676.3:p.Thr21693=
NM_133437.4:c.65280T>G (TTN) NP_597681.4:p.Thr21760=
NR_038271.1:n.447-21477A>C (TTN-AS1)
NR_038272.1:n.2043+7462A>C (TTN-AS1)
XM_011511729.1:c.90996T>G (TTN) XP_011510031.1:p.Thr30332=
XM_011511730.1:c.64890T>G (TTN) XP_011510032.1:p.Thr21630=
XM_011511731.1:c.64749T>G (TTN) XP_011510033.1:p.Thr21583=
XM_017004819.1:c.90792T>G (TTN) XP_016860308.1:p.Thr30264=
XM_017004820.1:c.86190T>G (TTN) XP_016860309.1:p.Thr28730=
XM_017004821.1:c.86187T>G (TTN) XP_016860310.1:p.Thr28729=
XM_017004822.1:c.83229T>G (TTN) XP_016860311.1:p.Thr27743=
XM_017004823.1:c.64845T>G (TTN) XP_016860312.1:p.Thr21615=
XM_024453094.1:c.86340T>G (TTN) XP_024308862.1:p.Thr28780=
XM_024453095.1:c.86337T>G (TTN) XP_024308863.1:p.Thr28779=
XM_024453096.1:c.85770T>G (TTN) XP_024308864.1:p.Thr28590=
XM_024453097.1:c.83112T>G (TTN) XP_024308865.1:p.Thr27704=
XM_024453098.1:c.83031T>G (TTN) XP_024308866.1:p.Thr27677=
XM_024453099.1:c.64794T>G (TTN) XP_024308867.1:p.Thr21598=
XM_024453100.1:c.54648T>G (TTN) XP_024308868.1:p.Thr18216=