Canonical Allele Identifier: CA349427795

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402302C>G (hg19) ; chr2:g.178537575C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537575C>G , CM000664.2:g.178537575C>G	GRCh38
NC_000002.11:g.179402302C>G , CM000664.1:g.179402302C>G	GRCh37
NC_000002.10:g.179110548C>G	NCBI36
NG_011618.3:g.298228G>C , LRG_391:g.298228G>C
NG_051363.1:g.19749C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91928G>C (TTN)	ENSP00000343764.6:p.Gly30643Ala
ENST00000342175.11:c.73013G>C (TTN)	ENSP00000340554.6:p.Gly24338Ala
ENST00000359218.10:c.72812G>C (TTN)	ENSP00000352154.5:p.Gly24271Ala
ENST00000342175.10:c.73013G>C (TTN)	ENSP00000340554.6:p.Gly24338Ala
ENST00000342992.10:c.91928G>C (TTN)	ENSP00000343764.6:p.Gly30643Ala
ENST00000359218.9:c.72812G>C (TTN)	ENSP00000352154.5:p.Gly24271Ala
ENST00000460472.6:c.72437G>C (TTN)	ENSP00000434586.1:p.Gly24146Ala
ENST00000589042.5:c.99632G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly33211Ala
ENST00000591111.5:c.94709G>C (TTN)	ENSP00000465570.1:p.Gly31570Ala
ENST00000615779.4:c.94709G>C (TTN)	ENSP00000483597.1:p.Gly31570Ala
NM_001256850.1:c.94709G>C (TTN)	NP_001243779.1:p.Gly31570Ala
NM_001267550.2:c.99632G>C (TTN) MANE Select	NP_001254479.2:p.Gly33211Ala
NM_003319.4:c.72437G>C (TTN)	NP_003310.4:p.Gly24146Ala
NM_133378.4:c.91928G>C (TTN)	NP_596869.4:p.Gly30643Ala
NM_133432.3:c.72812G>C (TTN)	NP_597676.3:p.Gly24271Ala
NM_133437.4:c.73013G>C (TTN)	NP_597681.4:p.Gly24338Ala
NR_038271.1:n.446+13939C>G (TTN-AS1)
NR_038272.1:n.531C>G (TTN-AS1)
XM_011511729.1:c.98729G>C (TTN)	XP_011510031.1:p.Gly32910Ala
XM_011511730.1:c.72623G>C (TTN)	XP_011510032.1:p.Gly24208Ala
XM_011511731.1:c.72482G>C (TTN)	XP_011510033.1:p.Gly24161Ala
XM_017004819.1:c.98525G>C (TTN)	XP_016860308.1:p.Gly32842Ala
XM_017004820.1:c.93923G>C (TTN)	XP_016860309.1:p.Gly31308Ala
XM_017004821.1:c.93920G>C (TTN)	XP_016860310.1:p.Gly31307Ala
XM_017004822.1:c.90962G>C (TTN)	XP_016860311.1:p.Gly30321Ala
XM_017004823.1:c.72578G>C (TTN)	XP_016860312.1:p.Gly24193Ala
XM_024453094.1:c.94073G>C (TTN)	XP_024308862.1:p.Gly31358Ala
XM_024453095.1:c.94070G>C (TTN)	XP_024308863.1:p.Gly31357Ala
XM_024453096.1:c.93503G>C (TTN)	XP_024308864.1:p.Gly31168Ala
XM_024453097.1:c.90845G>C (TTN)	XP_024308865.1:p.Gly30282Ala
XM_024453098.1:c.90764G>C (TTN)	XP_024308866.1:p.Gly30255Ala
XM_024453099.1:c.72527G>C (TTN)	XP_024308867.1:p.Gly24176Ala
XM_024453100.1:c.62381G>C (TTN)	XP_024308868.1:p.Gly20794Ala