Canonical Allele Identifier: CA349407307

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530638-A-G
• MyVariant Identifiers: chr2:g.179395365A>G (hg19) ; chr2:g.178530638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530638A>G , CM000664.2:g.178530638A>G	GRCh38
NC_000002.11:g.179395365A>G , CM000664.1:g.179395365A>G	GRCh37
NC_000002.10:g.179103611A>G	NCBI36
NG_011618.3:g.305165T>C , LRG_391:g.305165T>C
NG_051363.1:g.12812A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98273T>C (TTN)	ENSP00000343764.6:p.Leu32758Pro
ENST00000342175.11:c.79358T>C (TTN)	ENSP00000340554.6:p.Leu26453Pro
ENST00000359218.10:c.79157T>C (TTN)	ENSP00000352154.5:p.Leu26386Pro
ENST00000342175.10:c.79358T>C (TTN)	ENSP00000340554.6:p.Leu26453Pro
ENST00000342992.10:c.98273T>C (TTN)	ENSP00000343764.6:p.Leu32758Pro
ENST00000359218.9:c.79157T>C (TTN)	ENSP00000352154.5:p.Leu26386Pro
ENST00000460472.6:c.78782T>C (TTN)	ENSP00000434586.1:p.Leu26261Pro
ENST00000589042.5:c.105977T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu35326Pro
ENST00000591111.5:c.101054T>C (TTN)	ENSP00000465570.1:p.Leu33685Pro
ENST00000615779.4:c.101054T>C (TTN)	ENSP00000483597.1:p.Leu33685Pro
NM_001256850.1:c.101054T>C (TTN)	NP_001243779.1:p.Leu33685Pro
NM_001267550.2:c.105977T>C (TTN) MANE Select	NP_001254479.2:p.Leu35326Pro
NM_003319.4:c.78782T>C (TTN)	NP_003310.4:p.Leu26261Pro
NM_133378.4:c.98273T>C (TTN)	NP_596869.4:p.Leu32758Pro
NM_133432.3:c.79157T>C (TTN)	NP_597676.3:p.Leu26386Pro
NM_133437.4:c.79358T>C (TTN)	NP_597681.4:p.Leu26453Pro
NR_038271.1:n.446+7002A>G (TTN-AS1)
NR_038272.1:n.220-5094A>G (TTN-AS1)
XM_011511729.1:c.105074T>C (TTN)	XP_011510031.1:p.Leu35025Pro
XM_011511730.1:c.78968T>C (TTN)	XP_011510032.1:p.Leu26323Pro
XM_011511731.1:c.78827T>C (TTN)	XP_011510033.1:p.Leu26276Pro
XM_017004819.1:c.104870T>C (TTN)	XP_016860308.1:p.Leu34957Pro
XM_017004820.1:c.100268T>C (TTN)	XP_016860309.1:p.Leu33423Pro
XM_017004821.1:c.100265T>C (TTN)	XP_016860310.1:p.Leu33422Pro
XM_017004822.1:c.97307T>C (TTN)	XP_016860311.1:p.Leu32436Pro
XM_017004823.1:c.78923T>C (TTN)	XP_016860312.1:p.Leu26308Pro
XM_024453094.1:c.100418T>C (TTN)	XP_024308862.1:p.Leu33473Pro
XM_024453095.1:c.100415T>C (TTN)	XP_024308863.1:p.Leu33472Pro
XM_024453096.1:c.99848T>C (TTN)	XP_024308864.1:p.Leu33283Pro
XM_024453097.1:c.97190T>C (TTN)	XP_024308865.1:p.Leu32397Pro
XM_024453098.1:c.97109T>C (TTN)	XP_024308866.1:p.Leu32370Pro
XM_024453099.1:c.78872T>C (TTN)	XP_024308867.1:p.Leu26291Pro
XM_024453100.1:c.68726T>C (TTN)	XP_024308868.1:p.Leu22909Pro