Canonical Allele Identifier: CA349465209

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1384039456
• gnomAD v2: 2-179454141-G-A
• gnomAD v4: 2-178589414-G-A
• MyVariant Identifiers: chr2:g.179454141G>A (hg19) ; chr2:g.178589414G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54607C>T (TTN)	ENSP00000343764.6:p.Leu18203Phe
ENST00000342175.11:c.35692C>T (TTN)	ENSP00000340554.6:p.Leu11898Phe
ENST00000359218.10:c.35491C>T (TTN)	ENSP00000352154.5:p.Leu11831Phe
ENST00000342175.10:c.35692C>T (TTN)	ENSP00000340554.6:p.Leu11898Phe
ENST00000342992.10:c.54607C>T (TTN)	ENSP00000343764.6:p.Leu18203Phe
ENST00000359218.9:c.35491C>T (TTN)	ENSP00000352154.5:p.Leu11831Phe
ENST00000460472.6:c.35116C>T (TTN)	ENSP00000434586.1:p.Leu11706Phe
ENST00000589042.5:c.62311C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu20771Phe
ENST00000591111.5:c.57388C>T (TTN)	ENSP00000465570.1:p.Leu19130Phe
ENST00000615779.4:c.57388C>T (TTN)	ENSP00000483597.1:p.Leu19130Phe
NM_001256850.1:c.57388C>T (TTN)	NP_001243779.1:p.Leu19130Phe
NM_001267550.2:c.62311C>T (TTN) MANE Select	NP_001254479.2:p.Leu20771Phe
NM_003319.4:c.35116C>T (TTN)	NP_003310.4:p.Leu11706Phe
NM_133378.4:c.54607C>T (TTN)	NP_596869.4:p.Leu18203Phe
NM_133432.3:c.35491C>T (TTN)	NP_597676.3:p.Leu11831Phe
NM_133437.4:c.35692C>T (TTN)	NP_597681.4:p.Leu11898Phe
NR_038271.1:n.597-8182G>A (TTN-AS1)
NR_038272.1:n.3189-1725G>A (TTN-AS1)
XM_011511729.1:c.61408C>T (TTN)	XP_011510031.1:p.Leu20470Phe
XM_011511730.1:c.35302C>T (TTN)	XP_011510032.1:p.Leu11768Phe
XM_011511731.1:c.35161C>T (TTN)	XP_011510033.1:p.Leu11721Phe
XM_017004819.1:c.61204C>T (TTN)	XP_016860308.1:p.Leu20402Phe
XM_017004820.1:c.56602C>T (TTN)	XP_016860309.1:p.Leu18868Phe
XM_017004821.1:c.56599C>T (TTN)	XP_016860310.1:p.Leu18867Phe
XM_017004822.1:c.53641C>T (TTN)	XP_016860311.1:p.Leu17881Phe
XM_017004823.1:c.35257C>T (TTN)	XP_016860312.1:p.Leu11753Phe
XM_024453094.1:c.56752C>T (TTN)	XP_024308862.1:p.Leu18918Phe
XM_024453095.1:c.56749C>T (TTN)	XP_024308863.1:p.Leu18917Phe
XM_024453096.1:c.56182C>T (TTN)	XP_024308864.1:p.Leu18728Phe
XM_024453097.1:c.53524C>T (TTN)	XP_024308865.1:p.Leu17842Phe
XM_024453098.1:c.53443C>T (TTN)	XP_024308866.1:p.Leu17815Phe
XM_024453099.1:c.35206C>T (TTN)	XP_024308867.1:p.Leu11736Phe
XM_024453100.1:c.25060C>T (TTN)	XP_024308868.1:p.Leu8354Phe