Canonical Allele Identifier: CA430255180

Linked Data

MyVariant Identifiers: chr2:g.179435676A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570949A>G , CM000664.2:g.178570949A>G GRCh38
NC_000002.11:g.179435676A>G , CM000664.1:g.179435676A>G GRCh37
NC_000002.10:g.179143922A>G NCBI36
NG_011618.3:g.264854T>C , LRG_391:g.264854T>C
NG_051363.1:g.53123A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67479T>C (TTN) ENSP00000343764.6:p.Ile22493=
ENST00000342175.11:c.48564T>C (TTN) ENSP00000340554.6:p.Ile16188=
ENST00000359218.10:c.48363T>C (TTN) ENSP00000352154.5:p.Ile16121=
ENST00000342175.10:c.48564T>C (TTN) ENSP00000340554.6:p.Ile16188=
ENST00000342992.10:c.67479T>C (TTN) ENSP00000343764.6:p.Ile22493=
ENST00000359218.9:c.48363T>C (TTN) ENSP00000352154.5:p.Ile16121=
ENST00000460472.6:c.47988T>C (TTN) ENSP00000434586.1:p.Ile15996=
ENST00000589042.5:c.75183T>C (TTN) MANE Select ENSP00000467141.1:p.Ile25061=
ENST00000591111.5:c.70260T>C (TTN) ENSP00000465570.1:p.Ile23420=
ENST00000615779.4:c.70260T>C (TTN) ENSP00000483597.1:p.Ile23420=
NM_001256850.1:c.70260T>C (TTN) NP_001243779.1:p.Ile23420=
NM_001267550.2:c.75183T>C (TTN) MANE Select NP_001254479.2:p.Ile25061=
NM_003319.4:c.47988T>C (TTN) NP_003310.4:p.Ile15996=
NM_133378.4:c.67479T>C (TTN) NP_596869.4:p.Ile22493=
NM_133432.3:c.48363T>C (TTN) NP_597676.3:p.Ile16121=
NM_133437.4:c.48564T>C (TTN) NP_597681.4:p.Ile16188=
NR_038271.1:n.447-351A>G (TTN-AS1)
NR_038272.1:n.2044-11623A>G (TTN-AS1)
XM_011511729.1:c.74280T>C (TTN) XP_011510031.1:p.Ile24760=
XM_011511730.1:c.48174T>C (TTN) XP_011510032.1:p.Ile16058=
XM_011511731.1:c.48033T>C (TTN) XP_011510033.1:p.Ile16011=
XM_017004819.1:c.74076T>C (TTN) XP_016860308.1:p.Ile24692=
XM_017004820.1:c.69474T>C (TTN) XP_016860309.1:p.Ile23158=
XM_017004821.1:c.69471T>C (TTN) XP_016860310.1:p.Ile23157=
XM_017004822.1:c.66513T>C (TTN) XP_016860311.1:p.Ile22171=
XM_017004823.1:c.48129T>C (TTN) XP_016860312.1:p.Ile16043=
XM_024453094.1:c.69624T>C (TTN) XP_024308862.1:p.Ile23208=
XM_024453095.1:c.69621T>C (TTN) XP_024308863.1:p.Ile23207=
XM_024453096.1:c.69054T>C (TTN) XP_024308864.1:p.Ile23018=
XM_024453097.1:c.66396T>C (TTN) XP_024308865.1:p.Ile22132=
XM_024453098.1:c.66315T>C (TTN) XP_024308866.1:p.Ile22105=
XM_024453099.1:c.48078T>C (TTN) XP_024308867.1:p.Ile16026=
XM_024453100.1:c.37932T>C (TTN) XP_024308868.1:p.Ile12644=