Canonical Allele Identifier: CA430235937

Linked Data

MyVariant Identifiers: chr2:g.179396945A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532218A>C , CM000664.2:g.178532218A>C GRCh38
NC_000002.11:g.179396945A>C , CM000664.1:g.179396945A>C GRCh37
NC_000002.10:g.179105191A>C NCBI36
NG_011618.3:g.303585T>G , LRG_391:g.303585T>G
NG_051363.1:g.14392A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96693T>G (TTN) ENSP00000343764.6:p.Ser32231=
ENST00000342175.11:c.77778T>G (TTN) ENSP00000340554.6:p.Ser25926=
ENST00000359218.10:c.77577T>G (TTN) ENSP00000352154.5:p.Ser25859=
ENST00000342175.10:c.77778T>G (TTN) ENSP00000340554.6:p.Ser25926=
ENST00000342992.10:c.96693T>G (TTN) ENSP00000343764.6:p.Ser32231=
ENST00000359218.9:c.77577T>G (TTN) ENSP00000352154.5:p.Ser25859=
ENST00000460472.6:c.77202T>G (TTN) ENSP00000434586.1:p.Ser25734=
ENST00000589042.5:c.104397T>G (TTN) MANE Select ENSP00000467141.1:p.Ser34799=
ENST00000591111.5:c.99474T>G (TTN) ENSP00000465570.1:p.Ser33158=
ENST00000615779.4:c.99474T>G (TTN) ENSP00000483597.1:p.Ser33158=
NM_001256850.1:c.99474T>G (TTN) NP_001243779.1:p.Ser33158=
NM_001267550.2:c.104397T>G (TTN) MANE Select NP_001254479.2:p.Ser34799=
NM_003319.4:c.77202T>G (TTN) NP_003310.4:p.Ser25734=
NM_133378.4:c.96693T>G (TTN) NP_596869.4:p.Ser32231=
NM_133432.3:c.77577T>G (TTN) NP_597676.3:p.Ser25859=
NM_133437.4:c.77778T>G (TTN) NP_597681.4:p.Ser25926=
NR_038271.1:n.446+8582A>C (TTN-AS1)
NR_038272.1:n.220-3514A>C (TTN-AS1)
XM_011511729.1:c.103494T>G (TTN) XP_011510031.1:p.Ser34498=
XM_011511730.1:c.77388T>G (TTN) XP_011510032.1:p.Ser25796=
XM_011511731.1:c.77247T>G (TTN) XP_011510033.1:p.Ser25749=
XM_017004819.1:c.103290T>G (TTN) XP_016860308.1:p.Ser34430=
XM_017004820.1:c.98688T>G (TTN) XP_016860309.1:p.Ser32896=
XM_017004821.1:c.98685T>G (TTN) XP_016860310.1:p.Ser32895=
XM_017004822.1:c.95727T>G (TTN) XP_016860311.1:p.Ser31909=
XM_017004823.1:c.77343T>G (TTN) XP_016860312.1:p.Ser25781=
XM_024453094.1:c.98838T>G (TTN) XP_024308862.1:p.Ser32946=
XM_024453095.1:c.98835T>G (TTN) XP_024308863.1:p.Ser32945=
XM_024453096.1:c.98268T>G (TTN) XP_024308864.1:p.Ser32756=
XM_024453097.1:c.95610T>G (TTN) XP_024308865.1:p.Ser31870=
XM_024453098.1:c.95529T>G (TTN) XP_024308866.1:p.Ser31843=
XM_024453099.1:c.77292T>G (TTN) XP_024308867.1:p.Ser25764=
XM_024453100.1:c.67146T>G (TTN) XP_024308868.1:p.Ser22382=