Canonical Allele Identifier: CA430235752

Linked Data

MyVariant Identifiers: chr2:g.179396762T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532035T>G , CM000664.2:g.178532035T>G GRCh38
NC_000002.11:g.179396762T>G , CM000664.1:g.179396762T>G GRCh37
NC_000002.10:g.179105008T>G NCBI36
NG_011618.3:g.303768A>C , LRG_391:g.303768A>C
NG_051363.1:g.14209T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96876A>C (TTN) ENSP00000343764.6:p.Ser32292=
ENST00000342175.11:c.77961A>C (TTN) ENSP00000340554.6:p.Ser25987=
ENST00000359218.10:c.77760A>C (TTN) ENSP00000352154.5:p.Ser25920=
ENST00000342175.10:c.77961A>C (TTN) ENSP00000340554.6:p.Ser25987=
ENST00000342992.10:c.96876A>C (TTN) ENSP00000343764.6:p.Ser32292=
ENST00000359218.9:c.77760A>C (TTN) ENSP00000352154.5:p.Ser25920=
ENST00000460472.6:c.77385A>C (TTN) ENSP00000434586.1:p.Ser25795=
ENST00000589042.5:c.104580A>C (TTN) MANE Select ENSP00000467141.1:p.Ser34860=
ENST00000591111.5:c.99657A>C (TTN) ENSP00000465570.1:p.Ser33219=
ENST00000615779.4:c.99657A>C (TTN) ENSP00000483597.1:p.Ser33219=
NM_001256850.1:c.99657A>C (TTN) NP_001243779.1:p.Ser33219=
NM_001267550.2:c.104580A>C (TTN) MANE Select NP_001254479.2:p.Ser34860=
NM_003319.4:c.77385A>C (TTN) NP_003310.4:p.Ser25795=
NM_133378.4:c.96876A>C (TTN) NP_596869.4:p.Ser32292=
NM_133432.3:c.77760A>C (TTN) NP_597676.3:p.Ser25920=
NM_133437.4:c.77961A>C (TTN) NP_597681.4:p.Ser25987=
NR_038271.1:n.446+8399T>G (TTN-AS1)
NR_038272.1:n.220-3697T>G (TTN-AS1)
XM_011511729.1:c.103677A>C (TTN) XP_011510031.1:p.Ser34559=
XM_011511730.1:c.77571A>C (TTN) XP_011510032.1:p.Ser25857=
XM_011511731.1:c.77430A>C (TTN) XP_011510033.1:p.Ser25810=
XM_017004819.1:c.103473A>C (TTN) XP_016860308.1:p.Ser34491=
XM_017004820.1:c.98871A>C (TTN) XP_016860309.1:p.Ser32957=
XM_017004821.1:c.98868A>C (TTN) XP_016860310.1:p.Ser32956=
XM_017004822.1:c.95910A>C (TTN) XP_016860311.1:p.Ser31970=
XM_017004823.1:c.77526A>C (TTN) XP_016860312.1:p.Ser25842=
XM_024453094.1:c.99021A>C (TTN) XP_024308862.1:p.Ser33007=
XM_024453095.1:c.99018A>C (TTN) XP_024308863.1:p.Ser33006=
XM_024453096.1:c.98451A>C (TTN) XP_024308864.1:p.Ser32817=
XM_024453097.1:c.95793A>C (TTN) XP_024308865.1:p.Ser31931=
XM_024453098.1:c.95712A>C (TTN) XP_024308866.1:p.Ser31904=
XM_024453099.1:c.77475A>C (TTN) XP_024308867.1:p.Ser25825=
XM_024453100.1:c.67329A>C (TTN) XP_024308868.1:p.Ser22443=