Canonical Allele Identifier: CA430235869

Linked Data

MyVariant Identifiers: chr2:g.179396834T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532107T>C , CM000664.2:g.178532107T>C GRCh38
NC_000002.11:g.179396834T>C , CM000664.1:g.179396834T>C GRCh37
NC_000002.10:g.179105080T>C NCBI36
NG_011618.3:g.303696A>G , LRG_391:g.303696A>G
NG_051363.1:g.14281T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.96804A>G (TTN) ENSP00000343764.6:p.Leu32268=
ENST00000342175.11:c.77889A>G (TTN) ENSP00000340554.6:p.Leu25963=
ENST00000359218.10:c.77688A>G (TTN) ENSP00000352154.5:p.Leu25896=
ENST00000342175.10:c.77889A>G (TTN) ENSP00000340554.6:p.Leu25963=
ENST00000342992.10:c.96804A>G (TTN) ENSP00000343764.6:p.Leu32268=
ENST00000359218.9:c.77688A>G (TTN) ENSP00000352154.5:p.Leu25896=
ENST00000460472.6:c.77313A>G (TTN) ENSP00000434586.1:p.Leu25771=
ENST00000589042.5:c.104508A>G (TTN) MANE Select ENSP00000467141.1:p.Leu34836=
ENST00000591111.5:c.99585A>G (TTN) ENSP00000465570.1:p.Leu33195=
ENST00000615779.4:c.99585A>G (TTN) ENSP00000483597.1:p.Leu33195=
NM_001256850.1:c.99585A>G (TTN) NP_001243779.1:p.Leu33195=
NM_001267550.2:c.104508A>G (TTN) MANE Select NP_001254479.2:p.Leu34836=
NM_003319.4:c.77313A>G (TTN) NP_003310.4:p.Leu25771=
NM_133378.4:c.96804A>G (TTN) NP_596869.4:p.Leu32268=
NM_133432.3:c.77688A>G (TTN) NP_597676.3:p.Leu25896=
NM_133437.4:c.77889A>G (TTN) NP_597681.4:p.Leu25963=
NR_038271.1:n.446+8471T>C (TTN-AS1)
NR_038272.1:n.220-3625T>C (TTN-AS1)
XM_011511729.1:c.103605A>G (TTN) XP_011510031.1:p.Leu34535=
XM_011511730.1:c.77499A>G (TTN) XP_011510032.1:p.Leu25833=
XM_011511731.1:c.77358A>G (TTN) XP_011510033.1:p.Leu25786=
XM_017004819.1:c.103401A>G (TTN) XP_016860308.1:p.Leu34467=
XM_017004820.1:c.98799A>G (TTN) XP_016860309.1:p.Leu32933=
XM_017004821.1:c.98796A>G (TTN) XP_016860310.1:p.Leu32932=
XM_017004822.1:c.95838A>G (TTN) XP_016860311.1:p.Leu31946=
XM_017004823.1:c.77454A>G (TTN) XP_016860312.1:p.Leu25818=
XM_024453094.1:c.98949A>G (TTN) XP_024308862.1:p.Leu32983=
XM_024453095.1:c.98946A>G (TTN) XP_024308863.1:p.Leu32982=
XM_024453096.1:c.98379A>G (TTN) XP_024308864.1:p.Leu32793=
XM_024453097.1:c.95721A>G (TTN) XP_024308865.1:p.Leu31907=
XM_024453098.1:c.95640A>G (TTN) XP_024308866.1:p.Leu31880=
XM_024453099.1:c.77403A>G (TTN) XP_024308867.1:p.Leu25801=
XM_024453100.1:c.67257A>G (TTN) XP_024308868.1:p.Leu22419=