Canonical Allele Identifier: CA349616320

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434608T>C (hg19) ; chr2:g.178569881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569881T>C , CM000664.2:g.178569881T>C	GRCh38
NC_000002.11:g.179434608T>C , CM000664.1:g.179434608T>C	GRCh37
NC_000002.10:g.179142854T>C	NCBI36
NG_011618.3:g.265922A>G , LRG_391:g.265922A>G
NG_051363.1:g.52055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68547A>G (TTN)	ENSP00000343764.6:p.Ile22849Met
ENST00000342175.11:c.49632A>G (TTN)	ENSP00000340554.6:p.Ile16544Met
ENST00000359218.10:c.49431A>G (TTN)	ENSP00000352154.5:p.Ile16477Met
ENST00000342175.10:c.49632A>G (TTN)	ENSP00000340554.6:p.Ile16544Met
ENST00000342992.10:c.68547A>G (TTN)	ENSP00000343764.6:p.Ile22849Met
ENST00000359218.9:c.49431A>G (TTN)	ENSP00000352154.5:p.Ile16477Met
ENST00000460472.6:c.49056A>G (TTN)	ENSP00000434586.1:p.Ile16352Met
ENST00000589042.5:c.76251A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile25417Met
ENST00000591111.5:c.71328A>G (TTN)	ENSP00000465570.1:p.Ile23776Met
ENST00000615779.4:c.71328A>G (TTN)	ENSP00000483597.1:p.Ile23776Met
NM_001256850.1:c.71328A>G (TTN)	NP_001243779.1:p.Ile23776Met
NM_001267550.2:c.76251A>G (TTN) MANE Select	NP_001254479.2:p.Ile25417Met
NM_003319.4:c.49056A>G (TTN)	NP_003310.4:p.Ile16352Met
NM_133378.4:c.68547A>G (TTN)	NP_596869.4:p.Ile22849Met
NM_133432.3:c.49431A>G (TTN)	NP_597676.3:p.Ile16477Met
NM_133437.4:c.49632A>G (TTN)	NP_597681.4:p.Ile16544Met
NR_038271.1:n.447-1419T>C (TTN-AS1)
NR_038272.1:n.2044-12691T>C (TTN-AS1)
XM_011511729.1:c.75348A>G (TTN)	XP_011510031.1:p.Ile25116Met
XM_011511730.1:c.49242A>G (TTN)	XP_011510032.1:p.Ile16414Met
XM_011511731.1:c.49101A>G (TTN)	XP_011510033.1:p.Ile16367Met
XM_017004819.1:c.75144A>G (TTN)	XP_016860308.1:p.Ile25048Met
XM_017004820.1:c.70542A>G (TTN)	XP_016860309.1:p.Ile23514Met
XM_017004821.1:c.70539A>G (TTN)	XP_016860310.1:p.Ile23513Met
XM_017004822.1:c.67581A>G (TTN)	XP_016860311.1:p.Ile22527Met
XM_017004823.1:c.49197A>G (TTN)	XP_016860312.1:p.Ile16399Met
XM_024453094.1:c.70692A>G (TTN)	XP_024308862.1:p.Ile23564Met
XM_024453095.1:c.70689A>G (TTN)	XP_024308863.1:p.Ile23563Met
XM_024453096.1:c.70122A>G (TTN)	XP_024308864.1:p.Ile23374Met
XM_024453097.1:c.67464A>G (TTN)	XP_024308865.1:p.Ile22488Met
XM_024453098.1:c.67383A>G (TTN)	XP_024308866.1:p.Ile22461Met
XM_024453099.1:c.49146A>G (TTN)	XP_024308867.1:p.Ile16382Met
XM_024453100.1:c.39000A>G (TTN)	XP_024308868.1:p.Ile13000Met