Canonical Allele Identifier: CA60984018

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs768347250
• gnomAD v4: 2-178559830-C-T
• MyVariant Identifiers: chr2:g.179424557C>T (hg19) ; chr2:g.178559830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559830C>T , CM000664.2:g.178559830C>T	GRCh38
NC_000002.11:g.179424557C>T , CM000664.1:g.179424557C>T	GRCh37
NC_000002.10:g.179132803C>T	NCBI36
NG_011618.3:g.275973G>A , LRG_391:g.275973G>A
NG_051363.1:g.42004C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78598G>A (TTN)	ENSP00000343764.6:p.Ala26200Thr
ENST00000342175.11:c.59683G>A (TTN)	ENSP00000340554.6:p.Ala19895Thr
ENST00000359218.10:c.59482G>A (TTN)	ENSP00000352154.5:p.Ala19828Thr
ENST00000342175.10:c.59683G>A (TTN)	ENSP00000340554.6:p.Ala19895Thr
ENST00000342992.10:c.78598G>A (TTN)	ENSP00000343764.6:p.Ala26200Thr
ENST00000359218.9:c.59482G>A (TTN)	ENSP00000352154.5:p.Ala19828Thr
ENST00000460472.6:c.59107G>A (TTN)	ENSP00000434586.1:p.Ala19703Thr
ENST00000589042.5:c.86302G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala28768Thr
ENST00000591111.5:c.81379G>A (TTN)	ENSP00000465570.1:p.Ala27127Thr
ENST00000615779.4:c.81379G>A (TTN)	ENSP00000483597.1:p.Ala27127Thr
NM_001256850.1:c.81379G>A (TTN)	NP_001243779.1:p.Ala27127Thr
NM_001267550.2:c.86302G>A (TTN) MANE Select	NP_001254479.2:p.Ala28768Thr
NM_003319.4:c.59107G>A (TTN)	NP_003310.4:p.Ala19703Thr
NM_133378.4:c.78598G>A (TTN)	NP_596869.4:p.Ala26200Thr
NM_133432.3:c.59482G>A (TTN)	NP_597676.3:p.Ala19828Thr
NM_133437.4:c.59683G>A (TTN)	NP_597681.4:p.Ala19895Thr
NR_038271.1:n.447-11470C>T (TTN-AS1)
NR_038272.1:n.2043+17469C>T (TTN-AS1)
XM_011511729.1:c.85399G>A (TTN)	XP_011510031.1:p.Ala28467Thr
XM_011511730.1:c.59293G>A (TTN)	XP_011510032.1:p.Ala19765Thr
XM_011511731.1:c.59152G>A (TTN)	XP_011510033.1:p.Ala19718Thr
XM_017004819.1:c.85195G>A (TTN)	XP_016860308.1:p.Ala28399Thr
XM_017004820.1:c.80593G>A (TTN)	XP_016860309.1:p.Ala26865Thr
XM_017004821.1:c.80590G>A (TTN)	XP_016860310.1:p.Ala26864Thr
XM_017004822.1:c.77632G>A (TTN)	XP_016860311.1:p.Ala25878Thr
XM_017004823.1:c.59248G>A (TTN)	XP_016860312.1:p.Ala19750Thr
XM_024453094.1:c.80743G>A (TTN)	XP_024308862.1:p.Ala26915Thr
XM_024453095.1:c.80740G>A (TTN)	XP_024308863.1:p.Ala26914Thr
XM_024453096.1:c.80173G>A (TTN)	XP_024308864.1:p.Ala26725Thr
XM_024453097.1:c.77515G>A (TTN)	XP_024308865.1:p.Ala25839Thr
XM_024453098.1:c.77434G>A (TTN)	XP_024308866.1:p.Ala25812Thr
XM_024453099.1:c.59197G>A (TTN)	XP_024308867.1:p.Ala19733Thr
XM_024453100.1:c.49051G>A (TTN)	XP_024308868.1:p.Ala16351Thr