Canonical Allele Identifier: CA430241469

Linked Data

MyVariant Identifiers: chr2:g.179408586T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543859T>G , CM000664.2:g.178543859T>G GRCh38
NC_000002.11:g.179408586T>G , CM000664.1:g.179408586T>G GRCh37
NC_000002.10:g.179116832T>G NCBI36
NG_011618.3:g.291944A>C , LRG_391:g.291944A>C
NG_051363.1:g.26033T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88581A>C (TTN) ENSP00000343764.6:p.Ser29527=
ENST00000342175.11:c.69666A>C (TTN) ENSP00000340554.6:p.Ser23222=
ENST00000359218.10:c.69465A>C (TTN) ENSP00000352154.5:p.Ser23155=
ENST00000342175.10:c.69666A>C (TTN) ENSP00000340554.6:p.Ser23222=
ENST00000342992.10:c.88581A>C (TTN) ENSP00000343764.6:p.Ser29527=
ENST00000359218.9:c.69465A>C (TTN) ENSP00000352154.5:p.Ser23155=
ENST00000460472.6:c.69090A>C (TTN) ENSP00000434586.1:p.Ser23030=
ENST00000589042.5:c.96285A>C (TTN) MANE Select ENSP00000467141.1:p.Ser32095=
ENST00000591111.5:c.91362A>C (TTN) ENSP00000465570.1:p.Ser30454=
ENST00000615779.4:c.91362A>C (TTN) ENSP00000483597.1:p.Ser30454=
NM_001256850.1:c.91362A>C (TTN) NP_001243779.1:p.Ser30454=
NM_001267550.2:c.96285A>C (TTN) MANE Select NP_001254479.2:p.Ser32095=
NM_003319.4:c.69090A>C (TTN) NP_003310.4:p.Ser23030=
NM_133378.4:c.88581A>C (TTN) NP_596869.4:p.Ser29527=
NM_133432.3:c.69465A>C (TTN) NP_597676.3:p.Ser23155=
NM_133437.4:c.69666A>C (TTN) NP_597681.4:p.Ser23222=
NR_038271.1:n.446+20223T>G (TTN-AS1)
NR_038272.1:n.2043+1498T>G (TTN-AS1)
XM_011511729.1:c.95382A>C (TTN) XP_011510031.1:p.Ser31794=
XM_011511730.1:c.69276A>C (TTN) XP_011510032.1:p.Ser23092=
XM_011511731.1:c.69135A>C (TTN) XP_011510033.1:p.Ser23045=
XM_017004819.1:c.95178A>C (TTN) XP_016860308.1:p.Ser31726=
XM_017004820.1:c.90576A>C (TTN) XP_016860309.1:p.Ser30192=
XM_017004821.1:c.90573A>C (TTN) XP_016860310.1:p.Ser30191=
XM_017004822.1:c.87615A>C (TTN) XP_016860311.1:p.Ser29205=
XM_017004823.1:c.69231A>C (TTN) XP_016860312.1:p.Ser23077=
XM_024453094.1:c.90726A>C (TTN) XP_024308862.1:p.Ser30242=
XM_024453095.1:c.90723A>C (TTN) XP_024308863.1:p.Ser30241=
XM_024453096.1:c.90156A>C (TTN) XP_024308864.1:p.Ser30052=
XM_024453097.1:c.87498A>C (TTN) XP_024308865.1:p.Ser29166=
XM_024453098.1:c.87417A>C (TTN) XP_024308866.1:p.Ser29139=
XM_024453099.1:c.69180A>C (TTN) XP_024308867.1:p.Ser23060=
XM_024453100.1:c.59034A>C (TTN) XP_024308868.1:p.Ser19678=