Canonical Allele Identifier: CA430235548

Linked Data

MyVariant Identifiers: chr2:g.179395340A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530613A>G , CM000664.2:g.178530613A>G GRCh38
NC_000002.11:g.179395340A>G , CM000664.1:g.179395340A>G GRCh37
NC_000002.10:g.179103586A>G NCBI36
NG_011618.3:g.305190T>C , LRG_391:g.305190T>C
NG_051363.1:g.12787A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98298T>C (TTN) ENSP00000343764.6:p.Phe32766=
ENST00000342175.11:c.79383T>C (TTN) ENSP00000340554.6:p.Phe26461=
ENST00000359218.10:c.79182T>C (TTN) ENSP00000352154.5:p.Phe26394=
ENST00000342175.10:c.79383T>C (TTN) ENSP00000340554.6:p.Phe26461=
ENST00000342992.10:c.98298T>C (TTN) ENSP00000343764.6:p.Phe32766=
ENST00000359218.9:c.79182T>C (TTN) ENSP00000352154.5:p.Phe26394=
ENST00000460472.6:c.78807T>C (TTN) ENSP00000434586.1:p.Phe26269=
ENST00000589042.5:c.106002T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35334=
ENST00000591111.5:c.101079T>C (TTN) ENSP00000465570.1:p.Phe33693=
ENST00000615779.4:c.101079T>C (TTN) ENSP00000483597.1:p.Phe33693=
NM_001256850.1:c.101079T>C (TTN) NP_001243779.1:p.Phe33693=
NM_001267550.2:c.106002T>C (TTN) MANE Select NP_001254479.2:p.Phe35334=
NM_003319.4:c.78807T>C (TTN) NP_003310.4:p.Phe26269=
NM_133378.4:c.98298T>C (TTN) NP_596869.4:p.Phe32766=
NM_133432.3:c.79182T>C (TTN) NP_597676.3:p.Phe26394=
NM_133437.4:c.79383T>C (TTN) NP_597681.4:p.Phe26461=
NR_038271.1:n.446+6977A>G (TTN-AS1)
NR_038272.1:n.220-5119A>G (TTN-AS1)
XM_011511729.1:c.105099T>C (TTN) XP_011510031.1:p.Phe35033=
XM_011511730.1:c.78993T>C (TTN) XP_011510032.1:p.Phe26331=
XM_011511731.1:c.78852T>C (TTN) XP_011510033.1:p.Phe26284=
XM_017004819.1:c.104895T>C (TTN) XP_016860308.1:p.Phe34965=
XM_017004820.1:c.100293T>C (TTN) XP_016860309.1:p.Phe33431=
XM_017004821.1:c.100290T>C (TTN) XP_016860310.1:p.Phe33430=
XM_017004822.1:c.97332T>C (TTN) XP_016860311.1:p.Phe32444=
XM_017004823.1:c.78948T>C (TTN) XP_016860312.1:p.Phe26316=
XM_024453094.1:c.100443T>C (TTN) XP_024308862.1:p.Phe33481=
XM_024453095.1:c.100440T>C (TTN) XP_024308863.1:p.Phe33480=
XM_024453096.1:c.99873T>C (TTN) XP_024308864.1:p.Phe33291=
XM_024453097.1:c.97215T>C (TTN) XP_024308865.1:p.Phe32405=
XM_024453098.1:c.97134T>C (TTN) XP_024308866.1:p.Phe32378=
XM_024453099.1:c.78897T>C (TTN) XP_024308867.1:p.Phe26299=
XM_024453100.1:c.68751T>C (TTN) XP_024308868.1:p.Phe22917=