Canonical Allele Identifier: CA349408252

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395700G>C (hg19) ; chr2:g.178530973G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530973G>C , CM000664.2:g.178530973G>C	GRCh38
NC_000002.11:g.179395700G>C , CM000664.1:g.179395700G>C	GRCh37
NC_000002.10:g.179103946G>C	NCBI36
NG_011618.3:g.304830C>G , LRG_391:g.304830C>G
NG_051363.1:g.13147G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.97938C>G (TTN)	ENSP00000343764.6:p.Phe32646Leu
ENST00000342175.11:c.79023C>G (TTN)	ENSP00000340554.6:p.Phe26341Leu
ENST00000359218.10:c.78822C>G (TTN)	ENSP00000352154.5:p.Phe26274Leu
ENST00000342175.10:c.79023C>G (TTN)	ENSP00000340554.6:p.Phe26341Leu
ENST00000342992.10:c.97938C>G (TTN)	ENSP00000343764.6:p.Phe32646Leu
ENST00000359218.9:c.78822C>G (TTN)	ENSP00000352154.5:p.Phe26274Leu
ENST00000460472.6:c.78447C>G (TTN)	ENSP00000434586.1:p.Phe26149Leu
ENST00000589042.5:c.105642C>G (TTN) MANE Select	ENSP00000467141.1:p.Phe35214Leu
ENST00000591111.5:c.100719C>G (TTN)	ENSP00000465570.1:p.Phe33573Leu
ENST00000615779.4:c.100719C>G (TTN)	ENSP00000483597.1:p.Phe33573Leu
NM_001256850.1:c.100719C>G (TTN)	NP_001243779.1:p.Phe33573Leu
NM_001267550.2:c.105642C>G (TTN) MANE Select	NP_001254479.2:p.Phe35214Leu
NM_003319.4:c.78447C>G (TTN)	NP_003310.4:p.Phe26149Leu
NM_133378.4:c.97938C>G (TTN)	NP_596869.4:p.Phe32646Leu
NM_133432.3:c.78822C>G (TTN)	NP_597676.3:p.Phe26274Leu
NM_133437.4:c.79023C>G (TTN)	NP_597681.4:p.Phe26341Leu
NR_038271.1:n.446+7337G>C (TTN-AS1)
NR_038272.1:n.220-4759G>C (TTN-AS1)
XM_011511729.1:c.104739C>G (TTN)	XP_011510031.1:p.Phe34913Leu
XM_011511730.1:c.78633C>G (TTN)	XP_011510032.1:p.Phe26211Leu
XM_011511731.1:c.78492C>G (TTN)	XP_011510033.1:p.Phe26164Leu
XM_017004819.1:c.104535C>G (TTN)	XP_016860308.1:p.Phe34845Leu
XM_017004820.1:c.99933C>G (TTN)	XP_016860309.1:p.Phe33311Leu
XM_017004821.1:c.99930C>G (TTN)	XP_016860310.1:p.Phe33310Leu
XM_017004822.1:c.96972C>G (TTN)	XP_016860311.1:p.Phe32324Leu
XM_017004823.1:c.78588C>G (TTN)	XP_016860312.1:p.Phe26196Leu
XM_024453094.1:c.100083C>G (TTN)	XP_024308862.1:p.Phe33361Leu
XM_024453095.1:c.100080C>G (TTN)	XP_024308863.1:p.Phe33360Leu
XM_024453096.1:c.99513C>G (TTN)	XP_024308864.1:p.Phe33171Leu
XM_024453097.1:c.96855C>G (TTN)	XP_024308865.1:p.Phe32285Leu
XM_024453098.1:c.96774C>G (TTN)	XP_024308866.1:p.Phe32258Leu
XM_024453099.1:c.78537C>G (TTN)	XP_024308867.1:p.Phe26179Leu
XM_024453100.1:c.68391C>G (TTN)	XP_024308868.1:p.Phe22797Leu