Canonical Allele Identifier: CA349465210

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178589414-G-C
• MyVariant Identifiers: chr2:g.179454141G>C (hg19) ; chr2:g.178589414G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589414G>C , CM000664.2:g.178589414G>C	GRCh38
NC_000002.11:g.179454141G>C , CM000664.1:g.179454141G>C	GRCh37
NC_000002.10:g.179162387G>C	NCBI36
NG_011618.3:g.246389C>G , LRG_391:g.246389C>G
NG_051363.1:g.71588G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54607C>G (TTN)	ENSP00000343764.6:p.Leu18203Val
ENST00000342175.11:c.35692C>G (TTN)	ENSP00000340554.6:p.Leu11898Val
ENST00000359218.10:c.35491C>G (TTN)	ENSP00000352154.5:p.Leu11831Val
ENST00000342175.10:c.35692C>G (TTN)	ENSP00000340554.6:p.Leu11898Val
ENST00000342992.10:c.54607C>G (TTN)	ENSP00000343764.6:p.Leu18203Val
ENST00000359218.9:c.35491C>G (TTN)	ENSP00000352154.5:p.Leu11831Val
ENST00000460472.6:c.35116C>G (TTN)	ENSP00000434586.1:p.Leu11706Val
ENST00000589042.5:c.62311C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu20771Val
ENST00000591111.5:c.57388C>G (TTN)	ENSP00000465570.1:p.Leu19130Val
ENST00000615779.4:c.57388C>G (TTN)	ENSP00000483597.1:p.Leu19130Val
NM_001256850.1:c.57388C>G (TTN)	NP_001243779.1:p.Leu19130Val
NM_001267550.2:c.62311C>G (TTN) MANE Select	NP_001254479.2:p.Leu20771Val
NM_003319.4:c.35116C>G (TTN)	NP_003310.4:p.Leu11706Val
NM_133378.4:c.54607C>G (TTN)	NP_596869.4:p.Leu18203Val
NM_133432.3:c.35491C>G (TTN)	NP_597676.3:p.Leu11831Val
NM_133437.4:c.35692C>G (TTN)	NP_597681.4:p.Leu11898Val
NR_038271.1:n.597-8182G>C (TTN-AS1)
NR_038272.1:n.3189-1725G>C (TTN-AS1)
XM_011511729.1:c.61408C>G (TTN)	XP_011510031.1:p.Leu20470Val
XM_011511730.1:c.35302C>G (TTN)	XP_011510032.1:p.Leu11768Val
XM_011511731.1:c.35161C>G (TTN)	XP_011510033.1:p.Leu11721Val
XM_017004819.1:c.61204C>G (TTN)	XP_016860308.1:p.Leu20402Val
XM_017004820.1:c.56602C>G (TTN)	XP_016860309.1:p.Leu18868Val
XM_017004821.1:c.56599C>G (TTN)	XP_016860310.1:p.Leu18867Val
XM_017004822.1:c.53641C>G (TTN)	XP_016860311.1:p.Leu17881Val
XM_017004823.1:c.35257C>G (TTN)	XP_016860312.1:p.Leu11753Val
XM_024453094.1:c.56752C>G (TTN)	XP_024308862.1:p.Leu18918Val
XM_024453095.1:c.56749C>G (TTN)	XP_024308863.1:p.Leu18917Val
XM_024453096.1:c.56182C>G (TTN)	XP_024308864.1:p.Leu18728Val
XM_024453097.1:c.53524C>G (TTN)	XP_024308865.1:p.Leu17842Val
XM_024453098.1:c.53443C>G (TTN)	XP_024308866.1:p.Leu17815Val
XM_024453099.1:c.35206C>G (TTN)	XP_024308867.1:p.Leu11736Val
XM_024453100.1:c.25060C>G (TTN)	XP_024308868.1:p.Leu8354Val