Canonical Allele Identifier: CA349407114

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530551-C-G
• MyVariant Identifiers: chr2:g.179395278C>G (hg19) ; chr2:g.178530551C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530551C>G , CM000664.2:g.178530551C>G	GRCh38
NC_000002.11:g.179395278C>G , CM000664.1:g.179395278C>G	GRCh37
NC_000002.10:g.179103524C>G	NCBI36
NG_011618.3:g.305252G>C , LRG_391:g.305252G>C
NG_051363.1:g.12725C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98360G>C (TTN)	ENSP00000343764.6:p.Gly32787Ala
ENST00000342175.11:c.79445G>C (TTN)	ENSP00000340554.6:p.Gly26482Ala
ENST00000359218.10:c.79244G>C (TTN)	ENSP00000352154.5:p.Gly26415Ala
ENST00000342175.10:c.79445G>C (TTN)	ENSP00000340554.6:p.Gly26482Ala
ENST00000342992.10:c.98360G>C (TTN)	ENSP00000343764.6:p.Gly32787Ala
ENST00000359218.9:c.79244G>C (TTN)	ENSP00000352154.5:p.Gly26415Ala
ENST00000460472.6:c.78869G>C (TTN)	ENSP00000434586.1:p.Gly26290Ala
ENST00000589042.5:c.106064G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly35355Ala
ENST00000591111.5:c.101141G>C (TTN)	ENSP00000465570.1:p.Gly33714Ala
ENST00000615779.4:c.101141G>C (TTN)	ENSP00000483597.1:p.Gly33714Ala
NM_001256850.1:c.101141G>C (TTN)	NP_001243779.1:p.Gly33714Ala
NM_001267550.2:c.106064G>C (TTN) MANE Select	NP_001254479.2:p.Gly35355Ala
NM_003319.4:c.78869G>C (TTN)	NP_003310.4:p.Gly26290Ala
NM_133378.4:c.98360G>C (TTN)	NP_596869.4:p.Gly32787Ala
NM_133432.3:c.79244G>C (TTN)	NP_597676.3:p.Gly26415Ala
NM_133437.4:c.79445G>C (TTN)	NP_597681.4:p.Gly26482Ala
NR_038271.1:n.446+6915C>G (TTN-AS1)
NR_038272.1:n.220-5181C>G (TTN-AS1)
XM_011511729.1:c.105161G>C (TTN)	XP_011510031.1:p.Gly35054Ala
XM_011511730.1:c.79055G>C (TTN)	XP_011510032.1:p.Gly26352Ala
XM_011511731.1:c.78914G>C (TTN)	XP_011510033.1:p.Gly26305Ala
XM_017004819.1:c.104957G>C (TTN)	XP_016860308.1:p.Gly34986Ala
XM_017004820.1:c.100355G>C (TTN)	XP_016860309.1:p.Gly33452Ala
XM_017004821.1:c.100352G>C (TTN)	XP_016860310.1:p.Gly33451Ala
XM_017004822.1:c.97394G>C (TTN)	XP_016860311.1:p.Gly32465Ala
XM_017004823.1:c.79010G>C (TTN)	XP_016860312.1:p.Gly26337Ala
XM_024453094.1:c.100505G>C (TTN)	XP_024308862.1:p.Gly33502Ala
XM_024453095.1:c.100502G>C (TTN)	XP_024308863.1:p.Gly33501Ala
XM_024453096.1:c.99935G>C (TTN)	XP_024308864.1:p.Gly33312Ala
XM_024453097.1:c.97277G>C (TTN)	XP_024308865.1:p.Gly32426Ala
XM_024453098.1:c.97196G>C (TTN)	XP_024308866.1:p.Gly32399Ala
XM_024453099.1:c.78959G>C (TTN)	XP_024308867.1:p.Gly26320Ala
XM_024453100.1:c.68813G>C (TTN)	XP_024308868.1:p.Gly22938Ala