Canonical Allele Identifier: CA430114682

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179501438G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636711G>C , CM000664.2:g.178636711G>C	GRCh38
NC_000002.11:g.179501438G>C , CM000664.1:g.179501438G>C	GRCh37
NC_000002.10:g.179209683G>C	NCBI36
NG_011618.3:g.199092C>G , LRG_391:g.199092C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33312C>G	ENSP00000343764.6:p.Ala11104=
ENST00000342175.11:c.14397C>G	ENSP00000340554.6:p.Ala4799=
ENST00000359218.10:c.14196C>G	ENSP00000352154.5:p.Ala4732=
ENST00000342175.10:c.14397C>G	ENSP00000340554.6:p.Ala4799=
ENST00000342992.10:c.33312C>G	ENSP00000343764.6:p.Ala11104=
ENST00000359218.9:c.14196C>G	ENSP00000352154.5:p.Ala4732=
ENST00000460472.6:c.13821C>G	ENSP00000434586.1:p.Ala4607=
ENST00000589042.5:c.41016C>G MANE Select	ENSP00000467141.1:p.Ala13672=
ENST00000591111.5:c.36093C>G	ENSP00000465570.1:p.Ala12031=
ENST00000615779.4:c.36093C>G	ENSP00000483597.1:p.Ala12031=
NM_001256850.1:c.36093C>G	NP_001243779.1:p.Ala12031=
NM_001267550.2:c.41016C>G MANE Select	NP_001254479.2:p.Ala13672=
NM_003319.4:c.13821C>G	NP_003310.4:p.Ala4607=
NM_133378.4:c.33312C>G	NP_596869.4:p.Ala11104=
NM_133432.3:c.14196C>G	NP_597676.3:p.Ala4732=
NM_133437.4:c.14397C>G	NP_597681.4:p.Ala4799=
XM_011511729.1:c.40113C>G	XP_011510031.1:p.Ala13371=
XM_011511730.1:c.14007C>G	XP_011510032.1:p.Ala4669=
XM_011511731.1:c.13866C>G	XP_011510033.1:p.Ala4622=
XM_017004819.1:c.39909C>G	XP_016860308.1:p.Ala13303=
XM_017004820.1:c.35307C>G	XP_016860309.1:p.Ala11769=
XM_017004821.1:c.35304C>G	XP_016860310.1:p.Ala11768=
XM_017004822.1:c.32346C>G	XP_016860311.1:p.Ala10782=
XM_017004823.1:c.13962C>G	XP_016860312.1:p.Ala4654=
XM_024453094.1:c.35457C>G	XP_024308862.1:p.Ala11819=
XM_024453095.1:c.35454C>G	XP_024308863.1:p.Ala11818=
XM_024453096.1:c.34887C>G	XP_024308864.1:p.Ala11629=
XM_024453097.1:c.32229C>G	XP_024308865.1:p.Ala10743=
XM_024453098.1:c.32148C>G	XP_024308866.1:p.Ala10716=
XM_024453099.1:c.13911C>G	XP_024308867.1:p.Ala4637=
XM_024453100.1:c.3765C>G	XP_024308868.1:p.Ala1255=