Canonical Allele Identifier: CA430255172

Linked Data

dbSNP Id: rs1707971598
MyVariant Identifiers: chr2:g.179435673A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570946A>G , CM000664.2:g.178570946A>G GRCh38
NC_000002.11:g.179435673A>G , CM000664.1:g.179435673A>G GRCh37
NC_000002.10:g.179143919A>G NCBI36
NG_011618.3:g.264857T>C , LRG_391:g.264857T>C
NG_051363.1:g.53120A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67482T>C (TTN) ENSP00000343764.6:p.Ile22494=
ENST00000342175.11:c.48567T>C (TTN) ENSP00000340554.6:p.Ile16189=
ENST00000359218.10:c.48366T>C (TTN) ENSP00000352154.5:p.Ile16122=
ENST00000342175.10:c.48567T>C (TTN) ENSP00000340554.6:p.Ile16189=
ENST00000342992.10:c.67482T>C (TTN) ENSP00000343764.6:p.Ile22494=
ENST00000359218.9:c.48366T>C (TTN) ENSP00000352154.5:p.Ile16122=
ENST00000460472.6:c.47991T>C (TTN) ENSP00000434586.1:p.Ile15997=
ENST00000589042.5:c.75186T>C (TTN) MANE Select ENSP00000467141.1:p.Ile25062=
ENST00000591111.5:c.70263T>C (TTN) ENSP00000465570.1:p.Ile23421=
ENST00000615779.4:c.70263T>C (TTN) ENSP00000483597.1:p.Ile23421=
NM_001256850.1:c.70263T>C (TTN) NP_001243779.1:p.Ile23421=
NM_001267550.2:c.75186T>C (TTN) MANE Select NP_001254479.2:p.Ile25062=
NM_003319.4:c.47991T>C (TTN) NP_003310.4:p.Ile15997=
NM_133378.4:c.67482T>C (TTN) NP_596869.4:p.Ile22494=
NM_133432.3:c.48366T>C (TTN) NP_597676.3:p.Ile16122=
NM_133437.4:c.48567T>C (TTN) NP_597681.4:p.Ile16189=
NR_038271.1:n.447-354A>G (TTN-AS1)
NR_038272.1:n.2044-11626A>G (TTN-AS1)
XM_011511729.1:c.74283T>C (TTN) XP_011510031.1:p.Ile24761=
XM_011511730.1:c.48177T>C (TTN) XP_011510032.1:p.Ile16059=
XM_011511731.1:c.48036T>C (TTN) XP_011510033.1:p.Ile16012=
XM_017004819.1:c.74079T>C (TTN) XP_016860308.1:p.Ile24693=
XM_017004820.1:c.69477T>C (TTN) XP_016860309.1:p.Ile23159=
XM_017004821.1:c.69474T>C (TTN) XP_016860310.1:p.Ile23158=
XM_017004822.1:c.66516T>C (TTN) XP_016860311.1:p.Ile22172=
XM_017004823.1:c.48132T>C (TTN) XP_016860312.1:p.Ile16044=
XM_024453094.1:c.69627T>C (TTN) XP_024308862.1:p.Ile23209=
XM_024453095.1:c.69624T>C (TTN) XP_024308863.1:p.Ile23208=
XM_024453096.1:c.69057T>C (TTN) XP_024308864.1:p.Ile23019=
XM_024453097.1:c.66399T>C (TTN) XP_024308865.1:p.Ile22133=
XM_024453098.1:c.66318T>C (TTN) XP_024308866.1:p.Ile22106=
XM_024453099.1:c.48081T>C (TTN) XP_024308867.1:p.Ile16027=
XM_024453100.1:c.37935T>C (TTN) XP_024308868.1:p.Ile12645=