Canonical Allele Identifier: CA349451298

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543936-G-C
• MyVariant Identifiers: chr2:g.179408663G>C (hg19) ; chr2:g.178543936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543936G>C , CM000664.2:g.178543936G>C	GRCh38
NC_000002.11:g.179408663G>C , CM000664.1:g.179408663G>C	GRCh37
NC_000002.10:g.179116909G>C	NCBI36
NG_011618.3:g.291867C>G , LRG_391:g.291867C>G
NG_051363.1:g.26110G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88504C>G (TTN)	ENSP00000343764.6:p.Leu29502Val
ENST00000342175.11:c.69589C>G (TTN)	ENSP00000340554.6:p.Leu23197Val
ENST00000359218.10:c.69388C>G (TTN)	ENSP00000352154.5:p.Leu23130Val
ENST00000342175.10:c.69589C>G (TTN)	ENSP00000340554.6:p.Leu23197Val
ENST00000342992.10:c.88504C>G (TTN)	ENSP00000343764.6:p.Leu29502Val
ENST00000359218.9:c.69388C>G (TTN)	ENSP00000352154.5:p.Leu23130Val
ENST00000460472.6:c.69013C>G (TTN)	ENSP00000434586.1:p.Leu23005Val
ENST00000589042.5:c.96208C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu32070Val
ENST00000591111.5:c.91285C>G (TTN)	ENSP00000465570.1:p.Leu30429Val
ENST00000615779.4:c.91285C>G (TTN)	ENSP00000483597.1:p.Leu30429Val
NM_001256850.1:c.91285C>G (TTN)	NP_001243779.1:p.Leu30429Val
NM_001267550.2:c.96208C>G (TTN) MANE Select	NP_001254479.2:p.Leu32070Val
NM_003319.4:c.69013C>G (TTN)	NP_003310.4:p.Leu23005Val
NM_133378.4:c.88504C>G (TTN)	NP_596869.4:p.Leu29502Val
NM_133432.3:c.69388C>G (TTN)	NP_597676.3:p.Leu23130Val
NM_133437.4:c.69589C>G (TTN)	NP_597681.4:p.Leu23197Val
NR_038271.1:n.446+20300G>C (TTN-AS1)
NR_038272.1:n.2043+1575G>C (TTN-AS1)
XM_011511729.1:c.95305C>G (TTN)	XP_011510031.1:p.Leu31769Val
XM_011511730.1:c.69199C>G (TTN)	XP_011510032.1:p.Leu23067Val
XM_011511731.1:c.69058C>G (TTN)	XP_011510033.1:p.Leu23020Val
XM_017004819.1:c.95101C>G (TTN)	XP_016860308.1:p.Leu31701Val
XM_017004820.1:c.90499C>G (TTN)	XP_016860309.1:p.Leu30167Val
XM_017004821.1:c.90496C>G (TTN)	XP_016860310.1:p.Leu30166Val
XM_017004822.1:c.87538C>G (TTN)	XP_016860311.1:p.Leu29180Val
XM_017004823.1:c.69154C>G (TTN)	XP_016860312.1:p.Leu23052Val
XM_024453094.1:c.90649C>G (TTN)	XP_024308862.1:p.Leu30217Val
XM_024453095.1:c.90646C>G (TTN)	XP_024308863.1:p.Leu30216Val
XM_024453096.1:c.90079C>G (TTN)	XP_024308864.1:p.Leu30027Val
XM_024453097.1:c.87421C>G (TTN)	XP_024308865.1:p.Leu29141Val
XM_024453098.1:c.87340C>G (TTN)	XP_024308866.1:p.Leu29114Val
XM_024453099.1:c.69103C>G (TTN)	XP_024308867.1:p.Leu23035Val
XM_024453100.1:c.58957C>G (TTN)	XP_024308868.1:p.Leu19653Val