Canonical Allele Identifier: CA349407225

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395332G>A (hg19) ; chr2:g.178530605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530605G>A , CM000664.2:g.178530605G>A	GRCh38
NC_000002.11:g.179395332G>A , CM000664.1:g.179395332G>A	GRCh37
NC_000002.10:g.179103578G>A	NCBI36
NG_011618.3:g.305198C>T , LRG_391:g.305198C>T
NG_051363.1:g.12779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98306C>T (TTN)	ENSP00000343764.6:p.Ser32769Leu
ENST00000342175.11:c.79391C>T (TTN)	ENSP00000340554.6:p.Ser26464Leu
ENST00000359218.10:c.79190C>T (TTN)	ENSP00000352154.5:p.Ser26397Leu
ENST00000342175.10:c.79391C>T (TTN)	ENSP00000340554.6:p.Ser26464Leu
ENST00000342992.10:c.98306C>T (TTN)	ENSP00000343764.6:p.Ser32769Leu
ENST00000359218.9:c.79190C>T (TTN)	ENSP00000352154.5:p.Ser26397Leu
ENST00000460472.6:c.78815C>T (TTN)	ENSP00000434586.1:p.Ser26272Leu
ENST00000589042.5:c.106010C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser35337Leu
ENST00000591111.5:c.101087C>T (TTN)	ENSP00000465570.1:p.Ser33696Leu
ENST00000615779.4:c.101087C>T (TTN)	ENSP00000483597.1:p.Ser33696Leu
NM_001256850.1:c.101087C>T (TTN)	NP_001243779.1:p.Ser33696Leu
NM_001267550.2:c.106010C>T (TTN) MANE Select	NP_001254479.2:p.Ser35337Leu
NM_003319.4:c.78815C>T (TTN)	NP_003310.4:p.Ser26272Leu
NM_133378.4:c.98306C>T (TTN)	NP_596869.4:p.Ser32769Leu
NM_133432.3:c.79190C>T (TTN)	NP_597676.3:p.Ser26397Leu
NM_133437.4:c.79391C>T (TTN)	NP_597681.4:p.Ser26464Leu
NR_038271.1:n.446+6969G>A (TTN-AS1)
NR_038272.1:n.220-5127G>A (TTN-AS1)
XM_011511729.1:c.105107C>T (TTN)	XP_011510031.1:p.Ser35036Leu
XM_011511730.1:c.79001C>T (TTN)	XP_011510032.1:p.Ser26334Leu
XM_011511731.1:c.78860C>T (TTN)	XP_011510033.1:p.Ser26287Leu
XM_017004819.1:c.104903C>T (TTN)	XP_016860308.1:p.Ser34968Leu
XM_017004820.1:c.100301C>T (TTN)	XP_016860309.1:p.Ser33434Leu
XM_017004821.1:c.100298C>T (TTN)	XP_016860310.1:p.Ser33433Leu
XM_017004822.1:c.97340C>T (TTN)	XP_016860311.1:p.Ser32447Leu
XM_017004823.1:c.78956C>T (TTN)	XP_016860312.1:p.Ser26319Leu
XM_024453094.1:c.100451C>T (TTN)	XP_024308862.1:p.Ser33484Leu
XM_024453095.1:c.100448C>T (TTN)	XP_024308863.1:p.Ser33483Leu
XM_024453096.1:c.99881C>T (TTN)	XP_024308864.1:p.Ser33294Leu
XM_024453097.1:c.97223C>T (TTN)	XP_024308865.1:p.Ser32408Leu
XM_024453098.1:c.97142C>T (TTN)	XP_024308866.1:p.Ser32381Leu
XM_024453099.1:c.78905C>T (TTN)	XP_024308867.1:p.Ser26302Leu
XM_024453100.1:c.68759C>T (TTN)	XP_024308868.1:p.Ser22920Leu