Canonical Allele Identifier: CA430252457

Linked Data

MyVariant Identifiers: chr2:g.179430993A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566266A>C , CM000664.2:g.178566266A>C GRCh38
NC_000002.11:g.179430993A>C , CM000664.1:g.179430993A>C GRCh37
NC_000002.10:g.179139239A>C NCBI36
NG_011618.3:g.269537T>G , LRG_391:g.269537T>G
NG_051363.1:g.48440A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.72162T>G (TTN) ENSP00000343764.6:p.Pro24054=
ENST00000342175.11:c.53247T>G (TTN) ENSP00000340554.6:p.Pro17749=
ENST00000359218.10:c.53046T>G (TTN) ENSP00000352154.5:p.Pro17682=
ENST00000342175.10:c.53247T>G (TTN) ENSP00000340554.6:p.Pro17749=
ENST00000342992.10:c.72162T>G (TTN) ENSP00000343764.6:p.Pro24054=
ENST00000359218.9:c.53046T>G (TTN) ENSP00000352154.5:p.Pro17682=
ENST00000460472.6:c.52671T>G (TTN) ENSP00000434586.1:p.Pro17557=
ENST00000589042.5:c.79866T>G (TTN) MANE Select ENSP00000467141.1:p.Pro26622=
ENST00000591111.5:c.74943T>G (TTN) ENSP00000465570.1:p.Pro24981=
ENST00000615779.4:c.74943T>G (TTN) ENSP00000483597.1:p.Pro24981=
NM_001256850.1:c.74943T>G (TTN) NP_001243779.1:p.Pro24981=
NM_001267550.2:c.79866T>G (TTN) MANE Select NP_001254479.2:p.Pro26622=
NM_003319.4:c.52671T>G (TTN) NP_003310.4:p.Pro17557=
NM_133378.4:c.72162T>G (TTN) NP_596869.4:p.Pro24054=
NM_133432.3:c.53046T>G (TTN) NP_597676.3:p.Pro17682=
NM_133437.4:c.53247T>G (TTN) NP_597681.4:p.Pro17749=
NR_038271.1:n.447-5034A>C (TTN-AS1)
NR_038272.1:n.2044-16306A>C (TTN-AS1)
XM_011511729.1:c.78963T>G (TTN) XP_011510031.1:p.Pro26321=
XM_011511730.1:c.52857T>G (TTN) XP_011510032.1:p.Pro17619=
XM_011511731.1:c.52716T>G (TTN) XP_011510033.1:p.Pro17572=
XM_017004819.1:c.78759T>G (TTN) XP_016860308.1:p.Pro26253=
XM_017004820.1:c.74157T>G (TTN) XP_016860309.1:p.Pro24719=
XM_017004821.1:c.74154T>G (TTN) XP_016860310.1:p.Pro24718=
XM_017004822.1:c.71196T>G (TTN) XP_016860311.1:p.Pro23732=
XM_017004823.1:c.52812T>G (TTN) XP_016860312.1:p.Pro17604=
XM_024453094.1:c.74307T>G (TTN) XP_024308862.1:p.Pro24769=
XM_024453095.1:c.74304T>G (TTN) XP_024308863.1:p.Pro24768=
XM_024453096.1:c.73737T>G (TTN) XP_024308864.1:p.Pro24579=
XM_024453097.1:c.71079T>G (TTN) XP_024308865.1:p.Pro23693=
XM_024453098.1:c.70998T>G (TTN) XP_024308866.1:p.Pro23666=
XM_024453099.1:c.52761T>G (TTN) XP_024308867.1:p.Pro17587=
XM_024453100.1:c.42615T>G (TTN) XP_024308868.1:p.Pro14205=