Canonical Allele Identifier: CA430249657

Linked Data

MyVariant Identifiers: chr2:g.179427045T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562318T>C , CM000664.2:g.178562318T>C GRCh38
NC_000002.11:g.179427045T>C , CM000664.1:g.179427045T>C GRCh37
NC_000002.10:g.179135291T>C NCBI36
NG_011618.3:g.273485A>G , LRG_391:g.273485A>G
NG_051363.1:g.44492T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76110A>G (TTN) ENSP00000343764.6:p.Ala25370=
ENST00000342175.11:c.57195A>G (TTN) ENSP00000340554.6:p.Ala19065=
ENST00000359218.10:c.56994A>G (TTN) ENSP00000352154.5:p.Ala18998=
ENST00000342175.10:c.57195A>G (TTN) ENSP00000340554.6:p.Ala19065=
ENST00000342992.10:c.76110A>G (TTN) ENSP00000343764.6:p.Ala25370=
ENST00000359218.9:c.56994A>G (TTN) ENSP00000352154.5:p.Ala18998=
ENST00000460472.6:c.56619A>G (TTN) ENSP00000434586.1:p.Ala18873=
ENST00000589042.5:c.83814A>G (TTN) MANE Select ENSP00000467141.1:p.Ala27938=
ENST00000591111.5:c.78891A>G (TTN) ENSP00000465570.1:p.Ala26297=
ENST00000615779.4:c.78891A>G (TTN) ENSP00000483597.1:p.Ala26297=
NM_001256850.1:c.78891A>G (TTN) NP_001243779.1:p.Ala26297=
NM_001267550.2:c.83814A>G (TTN) MANE Select NP_001254479.2:p.Ala27938=
NM_003319.4:c.56619A>G (TTN) NP_003310.4:p.Ala18873=
NM_133378.4:c.76110A>G (TTN) NP_596869.4:p.Ala25370=
NM_133432.3:c.56994A>G (TTN) NP_597676.3:p.Ala18998=
NM_133437.4:c.57195A>G (TTN) NP_597681.4:p.Ala19065=
NR_038271.1:n.447-8982T>C (TTN-AS1)
NR_038272.1:n.2043+19957T>C (TTN-AS1)
XM_011511729.1:c.82911A>G (TTN) XP_011510031.1:p.Ala27637=
XM_011511730.1:c.56805A>G (TTN) XP_011510032.1:p.Ala18935=
XM_011511731.1:c.56664A>G (TTN) XP_011510033.1:p.Ala18888=
XM_017004819.1:c.82707A>G (TTN) XP_016860308.1:p.Ala27569=
XM_017004820.1:c.78105A>G (TTN) XP_016860309.1:p.Ala26035=
XM_017004821.1:c.78102A>G (TTN) XP_016860310.1:p.Ala26034=
XM_017004822.1:c.75144A>G (TTN) XP_016860311.1:p.Ala25048=
XM_017004823.1:c.56760A>G (TTN) XP_016860312.1:p.Ala18920=
XM_024453094.1:c.78255A>G (TTN) XP_024308862.1:p.Ala26085=
XM_024453095.1:c.78252A>G (TTN) XP_024308863.1:p.Ala26084=
XM_024453096.1:c.77685A>G (TTN) XP_024308864.1:p.Ala25895=
XM_024453097.1:c.75027A>G (TTN) XP_024308865.1:p.Ala25009=
XM_024453098.1:c.74946A>G (TTN) XP_024308866.1:p.Ala24982=
XM_024453099.1:c.56709A>G (TTN) XP_024308867.1:p.Ala18903=
XM_024453100.1:c.46563A>G (TTN) XP_024308868.1:p.Ala15521=