Canonical Allele Identifier: CA349446099

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88966G>C (TTN)	ENSP00000343764.6:p.Glu29656Gln
ENST00000342175.11:c.70051G>C (TTN)	ENSP00000340554.6:p.Glu23351Gln
ENST00000359218.10:c.69850G>C (TTN)	ENSP00000352154.5:p.Glu23284Gln
ENST00000342175.10:c.70051G>C (TTN)	ENSP00000340554.6:p.Glu23351Gln
ENST00000342992.10:c.88966G>C (TTN)	ENSP00000343764.6:p.Glu29656Gln
ENST00000359218.9:c.69850G>C (TTN)	ENSP00000352154.5:p.Glu23284Gln
ENST00000460472.6:c.69475G>C (TTN)	ENSP00000434586.1:p.Glu23159Gln
ENST00000589042.5:c.96670G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu32224Gln
ENST00000591111.5:c.91747G>C (TTN)	ENSP00000465570.1:p.Glu30583Gln
ENST00000615779.4:c.91747G>C (TTN)	ENSP00000483597.1:p.Glu30583Gln
NM_001256850.1:c.91747G>C (TTN)	NP_001243779.1:p.Glu30583Gln
NM_001267550.2:c.96670G>C (TTN) MANE Select	NP_001254479.2:p.Glu32224Gln
NM_003319.4:c.69475G>C (TTN)	NP_003310.4:p.Glu23159Gln
NM_133378.4:c.88966G>C (TTN)	NP_596869.4:p.Glu29656Gln
NM_133432.3:c.69850G>C (TTN)	NP_597676.3:p.Glu23284Gln
NM_133437.4:c.70051G>C (TTN)	NP_597681.4:p.Glu23351Gln
NR_038271.1:n.446+19667C>G (TTN-AS1)
NR_038272.1:n.2043+942C>G (TTN-AS1)
XM_011511729.1:c.95767G>C (TTN)	XP_011510031.1:p.Glu31923Gln
XM_011511730.1:c.69661G>C (TTN)	XP_011510032.1:p.Glu23221Gln
XM_011511731.1:c.69520G>C (TTN)	XP_011510033.1:p.Glu23174Gln
XM_017004819.1:c.95563G>C (TTN)	XP_016860308.1:p.Glu31855Gln
XM_017004820.1:c.90961G>C (TTN)	XP_016860309.1:p.Glu30321Gln
XM_017004821.1:c.90958G>C (TTN)	XP_016860310.1:p.Glu30320Gln
XM_017004822.1:c.88000G>C (TTN)	XP_016860311.1:p.Glu29334Gln
XM_017004823.1:c.69616G>C (TTN)	XP_016860312.1:p.Glu23206Gln
XM_024453094.1:c.91111G>C (TTN)	XP_024308862.1:p.Glu30371Gln
XM_024453095.1:c.91108G>C (TTN)	XP_024308863.1:p.Glu30370Gln
XM_024453096.1:c.90541G>C (TTN)	XP_024308864.1:p.Glu30181Gln
XM_024453097.1:c.87883G>C (TTN)	XP_024308865.1:p.Glu29295Gln
XM_024453098.1:c.87802G>C (TTN)	XP_024308866.1:p.Glu29268Gln
XM_024453099.1:c.69565G>C (TTN)	XP_024308867.1:p.Glu23189Gln
XM_024453100.1:c.59419G>C (TTN)	XP_024308868.1:p.Glu19807Gln