Canonical Allele Identifier: CA60991023

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs888575364
• gnomAD v2: 2-179431928-G-A
• gnomAD v3: 2-178567201-G-A
• gnomAD v4: 2-178567201-G-A
• COSMIC: COSM3895548 ; COSM3895549 ; COSM3895550 ; COSM3895551
• MyVariant Identifiers: chr2:g.179431928G>A (hg19) ; chr2:g.178567201G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567201G>A , CM000664.2:g.178567201G>A	GRCh38
NC_000002.11:g.179431928G>A , CM000664.1:g.179431928G>A	GRCh37
NC_000002.10:g.179140174G>A	NCBI36
NG_011618.3:g.268602C>T , LRG_391:g.268602C>T
NG_051363.1:g.49375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71227C>T (TTN)	ENSP00000343764.6:p.Pro23743Ser
ENST00000342175.11:c.52312C>T (TTN)	ENSP00000340554.6:p.Pro17438Ser
ENST00000359218.10:c.52111C>T (TTN)	ENSP00000352154.5:p.Pro17371Ser
ENST00000342175.10:c.52312C>T (TTN)	ENSP00000340554.6:p.Pro17438Ser
ENST00000342992.10:c.71227C>T (TTN)	ENSP00000343764.6:p.Pro23743Ser
ENST00000359218.9:c.52111C>T (TTN)	ENSP00000352154.5:p.Pro17371Ser
ENST00000460472.6:c.51736C>T (TTN)	ENSP00000434586.1:p.Pro17246Ser
ENST00000589042.5:c.78931C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro26311Ser
ENST00000591111.5:c.74008C>T (TTN)	ENSP00000465570.1:p.Pro24670Ser
ENST00000615779.4:c.74008C>T (TTN)	ENSP00000483597.1:p.Pro24670Ser
NM_001256850.1:c.74008C>T (TTN)	NP_001243779.1:p.Pro24670Ser
NM_001267550.2:c.78931C>T (TTN) MANE Select	NP_001254479.2:p.Pro26311Ser
NM_003319.4:c.51736C>T (TTN)	NP_003310.4:p.Pro17246Ser
NM_133378.4:c.71227C>T (TTN)	NP_596869.4:p.Pro23743Ser
NM_133432.3:c.52111C>T (TTN)	NP_597676.3:p.Pro17371Ser
NM_133437.4:c.52312C>T (TTN)	NP_597681.4:p.Pro17438Ser
NR_038271.1:n.447-4099G>A (TTN-AS1)
NR_038272.1:n.2044-15371G>A (TTN-AS1)
XM_011511729.1:c.78028C>T (TTN)	XP_011510031.1:p.Pro26010Ser
XM_011511730.1:c.51922C>T (TTN)	XP_011510032.1:p.Pro17308Ser
XM_011511731.1:c.51781C>T (TTN)	XP_011510033.1:p.Pro17261Ser
XM_017004819.1:c.77824C>T (TTN)	XP_016860308.1:p.Pro25942Ser
XM_017004820.1:c.73222C>T (TTN)	XP_016860309.1:p.Pro24408Ser
XM_017004821.1:c.73219C>T (TTN)	XP_016860310.1:p.Pro24407Ser
XM_017004822.1:c.70261C>T (TTN)	XP_016860311.1:p.Pro23421Ser
XM_017004823.1:c.51877C>T (TTN)	XP_016860312.1:p.Pro17293Ser
XM_024453094.1:c.73372C>T (TTN)	XP_024308862.1:p.Pro24458Ser
XM_024453095.1:c.73369C>T (TTN)	XP_024308863.1:p.Pro24457Ser
XM_024453096.1:c.72802C>T (TTN)	XP_024308864.1:p.Pro24268Ser
XM_024453097.1:c.70144C>T (TTN)	XP_024308865.1:p.Pro23382Ser
XM_024453098.1:c.70063C>T (TTN)	XP_024308866.1:p.Pro23355Ser
XM_024453099.1:c.51826C>T (TTN)	XP_024308867.1:p.Pro17276Ser
XM_024453100.1:c.41680C>T (TTN)	XP_024308868.1:p.Pro13894Ser