Canonical Allele Identifier: CA430235452

Linked Data

MyVariant Identifiers: chr2:g.179395310G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530583G>A , CM000664.2:g.178530583G>A GRCh38
NC_000002.11:g.179395310G>A , CM000664.1:g.179395310G>A GRCh37
NC_000002.10:g.179103556G>A NCBI36
NG_011618.3:g.305220C>T , LRG_391:g.305220C>T
NG_051363.1:g.12757G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98328C>T (TTN) ENSP00000343764.6:p.Leu32776=
ENST00000342175.11:c.79413C>T (TTN) ENSP00000340554.6:p.Leu26471=
ENST00000359218.10:c.79212C>T (TTN) ENSP00000352154.5:p.Leu26404=
ENST00000342175.10:c.79413C>T (TTN) ENSP00000340554.6:p.Leu26471=
ENST00000342992.10:c.98328C>T (TTN) ENSP00000343764.6:p.Leu32776=
ENST00000359218.9:c.79212C>T (TTN) ENSP00000352154.5:p.Leu26404=
ENST00000460472.6:c.78837C>T (TTN) ENSP00000434586.1:p.Leu26279=
ENST00000589042.5:c.106032C>T (TTN) MANE Select ENSP00000467141.1:p.Leu35344=
ENST00000591111.5:c.101109C>T (TTN) ENSP00000465570.1:p.Leu33703=
ENST00000615779.4:c.101109C>T (TTN) ENSP00000483597.1:p.Leu33703=
NM_001256850.1:c.101109C>T (TTN) NP_001243779.1:p.Leu33703=
NM_001267550.2:c.106032C>T (TTN) MANE Select NP_001254479.2:p.Leu35344=
NM_003319.4:c.78837C>T (TTN) NP_003310.4:p.Leu26279=
NM_133378.4:c.98328C>T (TTN) NP_596869.4:p.Leu32776=
NM_133432.3:c.79212C>T (TTN) NP_597676.3:p.Leu26404=
NM_133437.4:c.79413C>T (TTN) NP_597681.4:p.Leu26471=
NR_038271.1:n.446+6947G>A (TTN-AS1)
NR_038272.1:n.220-5149G>A (TTN-AS1)
XM_011511729.1:c.105129C>T (TTN) XP_011510031.1:p.Leu35043=
XM_011511730.1:c.79023C>T (TTN) XP_011510032.1:p.Leu26341=
XM_011511731.1:c.78882C>T (TTN) XP_011510033.1:p.Leu26294=
XM_017004819.1:c.104925C>T (TTN) XP_016860308.1:p.Leu34975=
XM_017004820.1:c.100323C>T (TTN) XP_016860309.1:p.Leu33441=
XM_017004821.1:c.100320C>T (TTN) XP_016860310.1:p.Leu33440=
XM_017004822.1:c.97362C>T (TTN) XP_016860311.1:p.Leu32454=
XM_017004823.1:c.78978C>T (TTN) XP_016860312.1:p.Leu26326=
XM_024453094.1:c.100473C>T (TTN) XP_024308862.1:p.Leu33491=
XM_024453095.1:c.100470C>T (TTN) XP_024308863.1:p.Leu33490=
XM_024453096.1:c.99903C>T (TTN) XP_024308864.1:p.Leu33301=
XM_024453097.1:c.97245C>T (TTN) XP_024308865.1:p.Leu32415=
XM_024453098.1:c.97164C>T (TTN) XP_024308866.1:p.Leu32388=
XM_024453099.1:c.78927C>T (TTN) XP_024308867.1:p.Leu26309=
XM_024453100.1:c.68781C>T (TTN) XP_024308868.1:p.Leu22927=