Canonical Allele Identifier: CA349411902

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396979C>A (hg19) ; chr2:g.178532252C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532252C>A , CM000664.2:g.178532252C>A	GRCh38
NC_000002.11:g.179396979C>A , CM000664.1:g.179396979C>A	GRCh37
NC_000002.10:g.179105225C>A	NCBI36
NG_011618.3:g.303551G>T , LRG_391:g.303551G>T
NG_051363.1:g.14426C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96659G>T (TTN)	ENSP00000343764.6:p.Ser32220Ile
ENST00000342175.11:c.77744G>T (TTN)	ENSP00000340554.6:p.Ser25915Ile
ENST00000359218.10:c.77543G>T (TTN)	ENSP00000352154.5:p.Ser25848Ile
ENST00000342175.10:c.77744G>T (TTN)	ENSP00000340554.6:p.Ser25915Ile
ENST00000342992.10:c.96659G>T (TTN)	ENSP00000343764.6:p.Ser32220Ile
ENST00000359218.9:c.77543G>T (TTN)	ENSP00000352154.5:p.Ser25848Ile
ENST00000460472.6:c.77168G>T (TTN)	ENSP00000434586.1:p.Ser25723Ile
ENST00000589042.5:c.104363G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser34788Ile
ENST00000591111.5:c.99440G>T (TTN)	ENSP00000465570.1:p.Ser33147Ile
ENST00000615779.4:c.99440G>T (TTN)	ENSP00000483597.1:p.Ser33147Ile
NM_001256850.1:c.99440G>T (TTN)	NP_001243779.1:p.Ser33147Ile
NM_001267550.2:c.104363G>T (TTN) MANE Select	NP_001254479.2:p.Ser34788Ile
NM_003319.4:c.77168G>T (TTN)	NP_003310.4:p.Ser25723Ile
NM_133378.4:c.96659G>T (TTN)	NP_596869.4:p.Ser32220Ile
NM_133432.3:c.77543G>T (TTN)	NP_597676.3:p.Ser25848Ile
NM_133437.4:c.77744G>T (TTN)	NP_597681.4:p.Ser25915Ile
NR_038271.1:n.446+8616C>A (TTN-AS1)
NR_038272.1:n.220-3480C>A (TTN-AS1)
XM_011511729.1:c.103460G>T (TTN)	XP_011510031.1:p.Ser34487Ile
XM_011511730.1:c.77354G>T (TTN)	XP_011510032.1:p.Ser25785Ile
XM_011511731.1:c.77213G>T (TTN)	XP_011510033.1:p.Ser25738Ile
XM_017004819.1:c.103256G>T (TTN)	XP_016860308.1:p.Ser34419Ile
XM_017004820.1:c.98654G>T (TTN)	XP_016860309.1:p.Ser32885Ile
XM_017004821.1:c.98651G>T (TTN)	XP_016860310.1:p.Ser32884Ile
XM_017004822.1:c.95693G>T (TTN)	XP_016860311.1:p.Ser31898Ile
XM_017004823.1:c.77309G>T (TTN)	XP_016860312.1:p.Ser25770Ile
XM_024453094.1:c.98804G>T (TTN)	XP_024308862.1:p.Ser32935Ile
XM_024453095.1:c.98801G>T (TTN)	XP_024308863.1:p.Ser32934Ile
XM_024453096.1:c.98234G>T (TTN)	XP_024308864.1:p.Ser32745Ile
XM_024453097.1:c.95576G>T (TTN)	XP_024308865.1:p.Ser31859Ile
XM_024453098.1:c.95495G>T (TTN)	XP_024308866.1:p.Ser31832Ile
XM_024453099.1:c.77258G>T (TTN)	XP_024308867.1:p.Ser25753Ile
XM_024453100.1:c.67112G>T (TTN)	XP_024308868.1:p.Ser22371Ile