Canonical Allele Identifier: CA349446097

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408030C>A (hg19) ; chr2:g.178543303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543303C>A , CM000664.2:g.178543303C>A	GRCh38
NC_000002.11:g.179408030C>A , CM000664.1:g.179408030C>A	GRCh37
NC_000002.10:g.179116276C>A	NCBI36
NG_011618.3:g.292500G>T , LRG_391:g.292500G>T
NG_051363.1:g.25477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88966G>T (TTN)	ENSP00000343764.6:p.Glu29656Ter
ENST00000342175.11:c.70051G>T (TTN)	ENSP00000340554.6:p.Glu23351Ter
ENST00000359218.10:c.69850G>T (TTN)	ENSP00000352154.5:p.Glu23284Ter
ENST00000342175.10:c.70051G>T (TTN)	ENSP00000340554.6:p.Glu23351Ter
ENST00000342992.10:c.88966G>T (TTN)	ENSP00000343764.6:p.Glu29656Ter
ENST00000359218.9:c.69850G>T (TTN)	ENSP00000352154.5:p.Glu23284Ter
ENST00000460472.6:c.69475G>T (TTN)	ENSP00000434586.1:p.Glu23159Ter
ENST00000589042.5:c.96670G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu32224Ter
ENST00000591111.5:c.91747G>T (TTN)	ENSP00000465570.1:p.Glu30583Ter
ENST00000615779.4:c.91747G>T (TTN)	ENSP00000483597.1:p.Glu30583Ter
NM_001256850.1:c.91747G>T (TTN)	NP_001243779.1:p.Glu30583Ter
NM_001267550.2:c.96670G>T (TTN) MANE Select	NP_001254479.2:p.Glu32224Ter
NM_003319.4:c.69475G>T (TTN)	NP_003310.4:p.Glu23159Ter
NM_133378.4:c.88966G>T (TTN)	NP_596869.4:p.Glu29656Ter
NM_133432.3:c.69850G>T (TTN)	NP_597676.3:p.Glu23284Ter
NM_133437.4:c.70051G>T (TTN)	NP_597681.4:p.Glu23351Ter
NR_038271.1:n.446+19667C>A (TTN-AS1)
NR_038272.1:n.2043+942C>A (TTN-AS1)
XM_011511729.1:c.95767G>T (TTN)	XP_011510031.1:p.Glu31923Ter
XM_011511730.1:c.69661G>T (TTN)	XP_011510032.1:p.Glu23221Ter
XM_011511731.1:c.69520G>T (TTN)	XP_011510033.1:p.Glu23174Ter
XM_017004819.1:c.95563G>T (TTN)	XP_016860308.1:p.Glu31855Ter
XM_017004820.1:c.90961G>T (TTN)	XP_016860309.1:p.Glu30321Ter
XM_017004821.1:c.90958G>T (TTN)	XP_016860310.1:p.Glu30320Ter
XM_017004822.1:c.88000G>T (TTN)	XP_016860311.1:p.Glu29334Ter
XM_017004823.1:c.69616G>T (TTN)	XP_016860312.1:p.Glu23206Ter
XM_024453094.1:c.91111G>T (TTN)	XP_024308862.1:p.Glu30371Ter
XM_024453095.1:c.91108G>T (TTN)	XP_024308863.1:p.Glu30370Ter
XM_024453096.1:c.90541G>T (TTN)	XP_024308864.1:p.Glu30181Ter
XM_024453097.1:c.87883G>T (TTN)	XP_024308865.1:p.Glu29295Ter
XM_024453098.1:c.87802G>T (TTN)	XP_024308866.1:p.Glu29268Ter
XM_024453099.1:c.69565G>T (TTN)	XP_024308867.1:p.Glu23189Ter
XM_024453100.1:c.59419G>T (TTN)	XP_024308868.1:p.Glu19807Ter