Canonical Allele Identifier: CA349406827

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530449-A-G
• MyVariant Identifiers: chr2:g.179395176A>G (hg19) ; chr2:g.178530449A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530449A>G , CM000664.2:g.178530449A>G	GRCh38
NC_000002.11:g.179395176A>G , CM000664.1:g.179395176A>G	GRCh37
NC_000002.10:g.179103422A>G	NCBI36
NG_011618.3:g.305354T>C , LRG_391:g.305354T>C
NG_051363.1:g.12623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98462T>C (TTN)	ENSP00000343764.6:p.Ile32821Thr
ENST00000342175.11:c.79547T>C (TTN)	ENSP00000340554.6:p.Ile26516Thr
ENST00000359218.10:c.79346T>C (TTN)	ENSP00000352154.5:p.Ile26449Thr
ENST00000342175.10:c.79547T>C (TTN)	ENSP00000340554.6:p.Ile26516Thr
ENST00000342992.10:c.98462T>C (TTN)	ENSP00000343764.6:p.Ile32821Thr
ENST00000359218.9:c.79346T>C (TTN)	ENSP00000352154.5:p.Ile26449Thr
ENST00000460472.6:c.78971T>C (TTN)	ENSP00000434586.1:p.Ile26324Thr
ENST00000589042.5:c.106166T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile35389Thr
ENST00000591111.5:c.101243T>C (TTN)	ENSP00000465570.1:p.Ile33748Thr
ENST00000615779.4:c.101243T>C (TTN)	ENSP00000483597.1:p.Ile33748Thr
NM_001256850.1:c.101243T>C (TTN)	NP_001243779.1:p.Ile33748Thr
NM_001267550.2:c.106166T>C (TTN) MANE Select	NP_001254479.2:p.Ile35389Thr
NM_003319.4:c.78971T>C (TTN)	NP_003310.4:p.Ile26324Thr
NM_133378.4:c.98462T>C (TTN)	NP_596869.4:p.Ile32821Thr
NM_133432.3:c.79346T>C (TTN)	NP_597676.3:p.Ile26449Thr
NM_133437.4:c.79547T>C (TTN)	NP_597681.4:p.Ile26516Thr
NR_038271.1:n.446+6813A>G (TTN-AS1)
NR_038272.1:n.220-5283A>G (TTN-AS1)
XM_011511729.1:c.105263T>C (TTN)	XP_011510031.1:p.Ile35088Thr
XM_011511730.1:c.79157T>C (TTN)	XP_011510032.1:p.Ile26386Thr
XM_011511731.1:c.79016T>C (TTN)	XP_011510033.1:p.Ile26339Thr
XM_017004819.1:c.105059T>C (TTN)	XP_016860308.1:p.Ile35020Thr
XM_017004820.1:c.100457T>C (TTN)	XP_016860309.1:p.Ile33486Thr
XM_017004821.1:c.100454T>C (TTN)	XP_016860310.1:p.Ile33485Thr
XM_017004822.1:c.97496T>C (TTN)	XP_016860311.1:p.Ile32499Thr
XM_017004823.1:c.79112T>C (TTN)	XP_016860312.1:p.Ile26371Thr
XM_024453094.1:c.100607T>C (TTN)	XP_024308862.1:p.Ile33536Thr
XM_024453095.1:c.100604T>C (TTN)	XP_024308863.1:p.Ile33535Thr
XM_024453096.1:c.100037T>C (TTN)	XP_024308864.1:p.Ile33346Thr
XM_024453097.1:c.97379T>C (TTN)	XP_024308865.1:p.Ile32460Thr
XM_024453098.1:c.97298T>C (TTN)	XP_024308866.1:p.Ile32433Thr
XM_024453099.1:c.79061T>C (TTN)	XP_024308867.1:p.Ile26354Thr
XM_024453100.1:c.68915T>C (TTN)	XP_024308868.1:p.Ile22972Thr