Canonical Allele Identifier: CA430235955

Linked Data

MyVariant Identifiers: chr2:g.179396990T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532263T>A , CM000664.2:g.178532263T>A GRCh38
NC_000002.11:g.179396990T>A , CM000664.1:g.179396990T>A GRCh37
NC_000002.10:g.179105236T>A NCBI36
NG_011618.3:g.303540A>T , LRG_391:g.303540A>T
NG_051363.1:g.14437T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96648A>T (TTN) ENSP00000343764.6:p.Ser32216=
ENST00000342175.11:c.77733A>T (TTN) ENSP00000340554.6:p.Ser25911=
ENST00000359218.10:c.77532A>T (TTN) ENSP00000352154.5:p.Ser25844=
ENST00000342175.10:c.77733A>T (TTN) ENSP00000340554.6:p.Ser25911=
ENST00000342992.10:c.96648A>T (TTN) ENSP00000343764.6:p.Ser32216=
ENST00000359218.9:c.77532A>T (TTN) ENSP00000352154.5:p.Ser25844=
ENST00000460472.6:c.77157A>T (TTN) ENSP00000434586.1:p.Ser25719=
ENST00000589042.5:c.104352A>T (TTN) MANE Select ENSP00000467141.1:p.Ser34784=
ENST00000591111.5:c.99429A>T (TTN) ENSP00000465570.1:p.Ser33143=
ENST00000615779.4:c.99429A>T (TTN) ENSP00000483597.1:p.Ser33143=
NM_001256850.1:c.99429A>T (TTN) NP_001243779.1:p.Ser33143=
NM_001267550.2:c.104352A>T (TTN) MANE Select NP_001254479.2:p.Ser34784=
NM_003319.4:c.77157A>T (TTN) NP_003310.4:p.Ser25719=
NM_133378.4:c.96648A>T (TTN) NP_596869.4:p.Ser32216=
NM_133432.3:c.77532A>T (TTN) NP_597676.3:p.Ser25844=
NM_133437.4:c.77733A>T (TTN) NP_597681.4:p.Ser25911=
NR_038271.1:n.446+8627T>A (TTN-AS1)
NR_038272.1:n.220-3469T>A (TTN-AS1)
XM_011511729.1:c.103449A>T (TTN) XP_011510031.1:p.Ser34483=
XM_011511730.1:c.77343A>T (TTN) XP_011510032.1:p.Ser25781=
XM_011511731.1:c.77202A>T (TTN) XP_011510033.1:p.Ser25734=
XM_017004819.1:c.103245A>T (TTN) XP_016860308.1:p.Ser34415=
XM_017004820.1:c.98643A>T (TTN) XP_016860309.1:p.Ser32881=
XM_017004821.1:c.98640A>T (TTN) XP_016860310.1:p.Ser32880=
XM_017004822.1:c.95682A>T (TTN) XP_016860311.1:p.Ser31894=
XM_017004823.1:c.77298A>T (TTN) XP_016860312.1:p.Ser25766=
XM_024453094.1:c.98793A>T (TTN) XP_024308862.1:p.Ser32931=
XM_024453095.1:c.98790A>T (TTN) XP_024308863.1:p.Ser32930=
XM_024453096.1:c.98223A>T (TTN) XP_024308864.1:p.Ser32741=
XM_024453097.1:c.95565A>T (TTN) XP_024308865.1:p.Ser31855=
XM_024453098.1:c.95484A>T (TTN) XP_024308866.1:p.Ser31828=
XM_024453099.1:c.77247A>T (TTN) XP_024308867.1:p.Ser25749=
XM_024453100.1:c.67101A>T (TTN) XP_024308868.1:p.Ser22367=