Canonical Allele Identifier: CA273595

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 179162
• ClinVar RCV Id: RCV000155948 ; RCV001378990 ; RCV002362826
• dbSNP Id: rs727504679
• MyVariant Identifiers: chr2:g.179404658C>A (hg19) ; chr2:g.178539931C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539931C>A , CM000664.2:g.178539931C>A	GRCh38
NC_000002.11:g.179404658C>A , CM000664.1:g.179404658C>A	GRCh37
NC_000002.10:g.179112904C>A	NCBI36
NG_011618.3:g.295872G>T , LRG_391:g.295872G>T
NG_051363.1:g.22105C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90430G>T (TTN)	ENSP00000343764.6:p.Glu30144Ter
ENST00000342175.11:c.71515G>T (TTN)	ENSP00000340554.6:p.Glu23839Ter
ENST00000359218.10:c.71314G>T (TTN)	ENSP00000352154.5:p.Glu23772Ter
ENST00000342175.10:c.71515G>T (TTN)	ENSP00000340554.6:p.Glu23839Ter
ENST00000342992.10:c.90430G>T (TTN)	ENSP00000343764.6:p.Glu30144Ter
ENST00000359218.9:c.71314G>T (TTN)	ENSP00000352154.5:p.Glu23772Ter
ENST00000460472.6:c.70939G>T (TTN)	ENSP00000434586.1:p.Glu23647Ter
ENST00000589042.5:c.98134G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu32712Ter
ENST00000591111.5:c.93211G>T (TTN)	ENSP00000465570.1:p.Glu31071Ter
ENST00000615779.4:c.93211G>T (TTN)	ENSP00000483597.1:p.Glu31071Ter
NM_001256850.1:c.93211G>T (TTN)	NP_001243779.1:p.Glu31071Ter
NM_001267550.2:c.98134G>T (TTN) MANE Select	NP_001254479.2:p.Glu32712Ter
NM_003319.4:c.70939G>T (TTN)	NP_003310.4:p.Glu23647Ter
NM_133378.4:c.90430G>T (TTN)	NP_596869.4:p.Glu30144Ter
NM_133432.3:c.71314G>T (TTN)	NP_597676.3:p.Glu23772Ter
NM_133437.4:c.71515G>T (TTN)	NP_597681.4:p.Glu23839Ter
NR_038271.1:n.446+16295C>A (TTN-AS1)
NR_038272.1:n.1840+41C>A (TTN-AS1)
XM_011511729.1:c.97231G>T (TTN)	XP_011510031.1:p.Glu32411Ter
XM_011511730.1:c.71125G>T (TTN)	XP_011510032.1:p.Glu23709Ter
XM_011511731.1:c.70984G>T (TTN)	XP_011510033.1:p.Glu23662Ter
XM_017004819.1:c.97027G>T (TTN)	XP_016860308.1:p.Glu32343Ter
XM_017004820.1:c.92425G>T (TTN)	XP_016860309.1:p.Glu30809Ter
XM_017004821.1:c.92422G>T (TTN)	XP_016860310.1:p.Glu30808Ter
XM_017004822.1:c.89464G>T (TTN)	XP_016860311.1:p.Glu29822Ter
XM_017004823.1:c.71080G>T (TTN)	XP_016860312.1:p.Glu23694Ter
XM_024453094.1:c.92575G>T (TTN)	XP_024308862.1:p.Glu30859Ter
XM_024453095.1:c.92572G>T (TTN)	XP_024308863.1:p.Glu30858Ter
XM_024453096.1:c.92005G>T (TTN)	XP_024308864.1:p.Glu30669Ter
XM_024453097.1:c.89347G>T (TTN)	XP_024308865.1:p.Glu29783Ter
XM_024453098.1:c.89266G>T (TTN)	XP_024308866.1:p.Glu29756Ter
XM_024453099.1:c.71029G>T (TTN)	XP_024308867.1:p.Glu23677Ter
XM_024453100.1:c.60883G>T (TTN)	XP_024308868.1:p.Glu20295Ter