Canonical Allele Identifier: CA1985149

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs765596129
• ExAC: 2:179395151 C / G
• gnomAD v2: 2-179395151-C-G
• gnomAD v3: 2-178530424-C-G
• gnomAD v4: 2-178530424-C-G
• MyVariant Identifiers: chr2:g.179395151C>G (hg19) ; chr2:g.178530424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530424C>G , CM000664.2:g.178530424C>G	GRCh38
NC_000002.11:g.179395151C>G , CM000664.1:g.179395151C>G	GRCh37
NC_000002.10:g.179103397C>G	NCBI36
NG_011618.3:g.305379G>C , LRG_391:g.305379G>C
NG_051363.1:g.12598C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98487G>C (TTN)	ENSP00000343764.6:p.Gln32829His
ENST00000342175.11:c.79572G>C (TTN)	ENSP00000340554.6:p.Gln26524His
ENST00000359218.10:c.79371G>C (TTN)	ENSP00000352154.5:p.Gln26457His
ENST00000342175.10:c.79572G>C (TTN)	ENSP00000340554.6:p.Gln26524His
ENST00000342992.10:c.98487G>C (TTN)	ENSP00000343764.6:p.Gln32829His
ENST00000359218.9:c.79371G>C (TTN)	ENSP00000352154.5:p.Gln26457His
ENST00000460472.6:c.78996G>C (TTN)	ENSP00000434586.1:p.Gln26332His
ENST00000589042.5:c.106191G>C (TTN) MANE Select	ENSP00000467141.1:p.Gln35397His
ENST00000591111.5:c.101268G>C (TTN)	ENSP00000465570.1:p.Gln33756His
ENST00000615779.4:c.101268G>C (TTN)	ENSP00000483597.1:p.Gln33756His
NM_001256850.1:c.101268G>C (TTN)	NP_001243779.1:p.Gln33756His
NM_001267550.2:c.106191G>C (TTN) MANE Select	NP_001254479.2:p.Gln35397His
NM_003319.4:c.78996G>C (TTN)	NP_003310.4:p.Gln26332His
NM_133378.4:c.98487G>C (TTN)	NP_596869.4:p.Gln32829His
NM_133432.3:c.79371G>C (TTN)	NP_597676.3:p.Gln26457His
NM_133437.4:c.79572G>C (TTN)	NP_597681.4:p.Gln26524His
NR_038271.1:n.446+6788C>G (TTN-AS1)
NR_038272.1:n.220-5308C>G (TTN-AS1)
XM_011511729.1:c.105288G>C (TTN)	XP_011510031.1:p.Gln35096His
XM_011511730.1:c.79182G>C (TTN)	XP_011510032.1:p.Gln26394His
XM_011511731.1:c.79041G>C (TTN)	XP_011510033.1:p.Gln26347His
XM_017004819.1:c.105084G>C (TTN)	XP_016860308.1:p.Gln35028His
XM_017004820.1:c.100482G>C (TTN)	XP_016860309.1:p.Gln33494His
XM_017004821.1:c.100479G>C (TTN)	XP_016860310.1:p.Gln33493His
XM_017004822.1:c.97521G>C (TTN)	XP_016860311.1:p.Gln32507His
XM_017004823.1:c.79137G>C (TTN)	XP_016860312.1:p.Gln26379His
XM_024453094.1:c.100632G>C (TTN)	XP_024308862.1:p.Gln33544His
XM_024453095.1:c.100629G>C (TTN)	XP_024308863.1:p.Gln33543His
XM_024453096.1:c.100062G>C (TTN)	XP_024308864.1:p.Gln33354His
XM_024453097.1:c.97404G>C (TTN)	XP_024308865.1:p.Gln32468His
XM_024453098.1:c.97323G>C (TTN)	XP_024308866.1:p.Gln32441His
XM_024453099.1:c.79086G>C (TTN)	XP_024308867.1:p.Gln26362His
XM_024453100.1:c.68940G>C (TTN)	XP_024308868.1:p.Gln22980His