Canonical Allele Identifier: CA430235896

Linked Data

MyVariant Identifiers: chr2:g.179396876T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532149T>A , CM000664.2:g.178532149T>A GRCh38
NC_000002.11:g.179396876T>A , CM000664.1:g.179396876T>A GRCh37
NC_000002.10:g.179105122T>A NCBI36
NG_011618.3:g.303654A>T , LRG_391:g.303654A>T
NG_051363.1:g.14323T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96762A>T (TTN) ENSP00000343764.6:p.Ser32254=
ENST00000342175.11:c.77847A>T (TTN) ENSP00000340554.6:p.Ser25949=
ENST00000359218.10:c.77646A>T (TTN) ENSP00000352154.5:p.Ser25882=
ENST00000342175.10:c.77847A>T (TTN) ENSP00000340554.6:p.Ser25949=
ENST00000342992.10:c.96762A>T (TTN) ENSP00000343764.6:p.Ser32254=
ENST00000359218.9:c.77646A>T (TTN) ENSP00000352154.5:p.Ser25882=
ENST00000460472.6:c.77271A>T (TTN) ENSP00000434586.1:p.Ser25757=
ENST00000589042.5:c.104466A>T (TTN) MANE Select ENSP00000467141.1:p.Ser34822=
ENST00000591111.5:c.99543A>T (TTN) ENSP00000465570.1:p.Ser33181=
ENST00000615779.4:c.99543A>T (TTN) ENSP00000483597.1:p.Ser33181=
NM_001256850.1:c.99543A>T (TTN) NP_001243779.1:p.Ser33181=
NM_001267550.2:c.104466A>T (TTN) MANE Select NP_001254479.2:p.Ser34822=
NM_003319.4:c.77271A>T (TTN) NP_003310.4:p.Ser25757=
NM_133378.4:c.96762A>T (TTN) NP_596869.4:p.Ser32254=
NM_133432.3:c.77646A>T (TTN) NP_597676.3:p.Ser25882=
NM_133437.4:c.77847A>T (TTN) NP_597681.4:p.Ser25949=
NR_038271.1:n.446+8513T>A (TTN-AS1)
NR_038272.1:n.220-3583T>A (TTN-AS1)
XM_011511729.1:c.103563A>T (TTN) XP_011510031.1:p.Ser34521=
XM_011511730.1:c.77457A>T (TTN) XP_011510032.1:p.Ser25819=
XM_011511731.1:c.77316A>T (TTN) XP_011510033.1:p.Ser25772=
XM_017004819.1:c.103359A>T (TTN) XP_016860308.1:p.Ser34453=
XM_017004820.1:c.98757A>T (TTN) XP_016860309.1:p.Ser32919=
XM_017004821.1:c.98754A>T (TTN) XP_016860310.1:p.Ser32918=
XM_017004822.1:c.95796A>T (TTN) XP_016860311.1:p.Ser31932=
XM_017004823.1:c.77412A>T (TTN) XP_016860312.1:p.Ser25804=
XM_024453094.1:c.98907A>T (TTN) XP_024308862.1:p.Ser32969=
XM_024453095.1:c.98904A>T (TTN) XP_024308863.1:p.Ser32968=
XM_024453096.1:c.98337A>T (TTN) XP_024308864.1:p.Ser32779=
XM_024453097.1:c.95679A>T (TTN) XP_024308865.1:p.Ser31893=
XM_024453098.1:c.95598A>T (TTN) XP_024308866.1:p.Ser31866=
XM_024453099.1:c.77361A>T (TTN) XP_024308867.1:p.Ser25787=
XM_024453100.1:c.67215A>T (TTN) XP_024308868.1:p.Ser22405=