Canonical Allele Identifier: CA349466263

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1454972562
• gnomAD v2: 2-179410942-G-A
• MyVariant Identifiers: chr2:g.179410942G>A (hg19) ; chr2:g.178546215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546215G>A , CM000664.2:g.178546215G>A	GRCh38
NC_000002.11:g.179410942G>A , CM000664.1:g.179410942G>A	GRCh37
NC_000002.10:g.179119188G>A	NCBI36
NG_011618.3:g.289588C>T , LRG_391:g.289588C>T
NG_051363.1:g.28389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87412C>T (TTN)	ENSP00000343764.6:p.Leu29138Phe
ENST00000342175.11:c.68497C>T (TTN)	ENSP00000340554.6:p.Leu22833Phe
ENST00000359218.10:c.68296C>T (TTN)	ENSP00000352154.5:p.Leu22766Phe
ENST00000342175.10:c.68497C>T (TTN)	ENSP00000340554.6:p.Leu22833Phe
ENST00000342992.10:c.87412C>T (TTN)	ENSP00000343764.6:p.Leu29138Phe
ENST00000359218.9:c.68296C>T (TTN)	ENSP00000352154.5:p.Leu22766Phe
ENST00000460472.6:c.67921C>T (TTN)	ENSP00000434586.1:p.Leu22641Phe
ENST00000589042.5:c.95116C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu31706Phe
ENST00000591111.5:c.90193C>T (TTN)	ENSP00000465570.1:p.Leu30065Phe
ENST00000615779.4:c.90193C>T (TTN)	ENSP00000483597.1:p.Leu30065Phe
NM_001256850.1:c.90193C>T (TTN)	NP_001243779.1:p.Leu30065Phe
NM_001267550.2:c.95116C>T (TTN) MANE Select	NP_001254479.2:p.Leu31706Phe
NM_003319.4:c.67921C>T (TTN)	NP_003310.4:p.Leu22641Phe
NM_133378.4:c.87412C>T (TTN)	NP_596869.4:p.Leu29138Phe
NM_133432.3:c.68296C>T (TTN)	NP_597676.3:p.Leu22766Phe
NM_133437.4:c.68497C>T (TTN)	NP_597681.4:p.Leu22833Phe
NR_038271.1:n.446+22579G>A (TTN-AS1)
NR_038272.1:n.2043+3854G>A (TTN-AS1)
XM_011511729.1:c.94213C>T (TTN)	XP_011510031.1:p.Leu31405Phe
XM_011511730.1:c.68107C>T (TTN)	XP_011510032.1:p.Leu22703Phe
XM_011511731.1:c.67966C>T (TTN)	XP_011510033.1:p.Leu22656Phe
XM_017004819.1:c.94009C>T (TTN)	XP_016860308.1:p.Leu31337Phe
XM_017004820.1:c.89407C>T (TTN)	XP_016860309.1:p.Leu29803Phe
XM_017004821.1:c.89404C>T (TTN)	XP_016860310.1:p.Leu29802Phe
XM_017004822.1:c.86446C>T (TTN)	XP_016860311.1:p.Leu28816Phe
XM_017004823.1:c.68062C>T (TTN)	XP_016860312.1:p.Leu22688Phe
XM_024453094.1:c.89557C>T (TTN)	XP_024308862.1:p.Leu29853Phe
XM_024453095.1:c.89554C>T (TTN)	XP_024308863.1:p.Leu29852Phe
XM_024453096.1:c.88987C>T (TTN)	XP_024308864.1:p.Leu29663Phe
XM_024453097.1:c.86329C>T (TTN)	XP_024308865.1:p.Leu28777Phe
XM_024453098.1:c.86248C>T (TTN)	XP_024308866.1:p.Leu28750Phe
XM_024453099.1:c.68011C>T (TTN)	XP_024308867.1:p.Leu22671Phe
XM_024453100.1:c.57865C>T (TTN)	XP_024308868.1:p.Leu19289Phe