Canonical Allele Identifier: CA430235894

Linked Data

MyVariant Identifiers: chr2:g.179396867A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532140A>C , CM000664.2:g.178532140A>C GRCh38
NC_000002.11:g.179396867A>C , CM000664.1:g.179396867A>C GRCh37
NC_000002.10:g.179105113A>C NCBI36
NG_011618.3:g.303663T>G , LRG_391:g.303663T>G
NG_051363.1:g.14314A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96771T>G (TTN) ENSP00000343764.6:p.Ala32257=
ENST00000342175.11:c.77856T>G (TTN) ENSP00000340554.6:p.Ala25952=
ENST00000359218.10:c.77655T>G (TTN) ENSP00000352154.5:p.Ala25885=
ENST00000342175.10:c.77856T>G (TTN) ENSP00000340554.6:p.Ala25952=
ENST00000342992.10:c.96771T>G (TTN) ENSP00000343764.6:p.Ala32257=
ENST00000359218.9:c.77655T>G (TTN) ENSP00000352154.5:p.Ala25885=
ENST00000460472.6:c.77280T>G (TTN) ENSP00000434586.1:p.Ala25760=
ENST00000589042.5:c.104475T>G (TTN) MANE Select ENSP00000467141.1:p.Ala34825=
ENST00000591111.5:c.99552T>G (TTN) ENSP00000465570.1:p.Ala33184=
ENST00000615779.4:c.99552T>G (TTN) ENSP00000483597.1:p.Ala33184=
NM_001256850.1:c.99552T>G (TTN) NP_001243779.1:p.Ala33184=
NM_001267550.2:c.104475T>G (TTN) MANE Select NP_001254479.2:p.Ala34825=
NM_003319.4:c.77280T>G (TTN) NP_003310.4:p.Ala25760=
NM_133378.4:c.96771T>G (TTN) NP_596869.4:p.Ala32257=
NM_133432.3:c.77655T>G (TTN) NP_597676.3:p.Ala25885=
NM_133437.4:c.77856T>G (TTN) NP_597681.4:p.Ala25952=
NR_038271.1:n.446+8504A>C (TTN-AS1)
NR_038272.1:n.220-3592A>C (TTN-AS1)
XM_011511729.1:c.103572T>G (TTN) XP_011510031.1:p.Ala34524=
XM_011511730.1:c.77466T>G (TTN) XP_011510032.1:p.Ala25822=
XM_011511731.1:c.77325T>G (TTN) XP_011510033.1:p.Ala25775=
XM_017004819.1:c.103368T>G (TTN) XP_016860308.1:p.Ala34456=
XM_017004820.1:c.98766T>G (TTN) XP_016860309.1:p.Ala32922=
XM_017004821.1:c.98763T>G (TTN) XP_016860310.1:p.Ala32921=
XM_017004822.1:c.95805T>G (TTN) XP_016860311.1:p.Ala31935=
XM_017004823.1:c.77421T>G (TTN) XP_016860312.1:p.Ala25807=
XM_024453094.1:c.98916T>G (TTN) XP_024308862.1:p.Ala32972=
XM_024453095.1:c.98913T>G (TTN) XP_024308863.1:p.Ala32971=
XM_024453096.1:c.98346T>G (TTN) XP_024308864.1:p.Ala32782=
XM_024453097.1:c.95688T>G (TTN) XP_024308865.1:p.Ala31896=
XM_024453098.1:c.95607T>G (TTN) XP_024308866.1:p.Ala31869=
XM_024453099.1:c.77370T>G (TTN) XP_024308867.1:p.Ala25790=
XM_024453100.1:c.67224T>G (TTN) XP_024308868.1:p.Ala22408=