Canonical Allele Identifier: CA349405213

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530038-A-T
• MyVariant Identifiers: chr2:g.179394765A>T (hg19) ; chr2:g.178530038A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530038A>T , CM000664.2:g.178530038A>T	GRCh38
NC_000002.11:g.179394765A>T , CM000664.1:g.179394765A>T	GRCh37
NC_000002.10:g.179103011A>T	NCBI36
NG_011618.3:g.305765T>A , LRG_391:g.305765T>A
NG_051363.1:g.12212A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98749T>A (TTN)	ENSP00000343764.6:p.Ser32917Thr
ENST00000342175.11:c.79834T>A (TTN)	ENSP00000340554.6:p.Ser26612Thr
ENST00000359218.10:c.79633T>A (TTN)	ENSP00000352154.5:p.Ser26545Thr
ENST00000342175.10:c.79834T>A (TTN)	ENSP00000340554.6:p.Ser26612Thr
ENST00000342992.10:c.98749T>A (TTN)	ENSP00000343764.6:p.Ser32917Thr
ENST00000359218.9:c.79633T>A (TTN)	ENSP00000352154.5:p.Ser26545Thr
ENST00000460472.6:c.79258T>A (TTN)	ENSP00000434586.1:p.Ser26420Thr
ENST00000589042.5:c.106453T>A (TTN) MANE Select	ENSP00000467141.1:p.Ser35485Thr
ENST00000591111.5:c.101530T>A (TTN)	ENSP00000465570.1:p.Ser33844Thr
ENST00000615779.4:c.101530T>A (TTN)	ENSP00000483597.1:p.Ser33844Thr
NM_001256850.1:c.101530T>A (TTN)	NP_001243779.1:p.Ser33844Thr
NM_001267550.2:c.106453T>A (TTN) MANE Select	NP_001254479.2:p.Ser35485Thr
NM_003319.4:c.79258T>A (TTN)	NP_003310.4:p.Ser26420Thr
NM_133378.4:c.98749T>A (TTN)	NP_596869.4:p.Ser32917Thr
NM_133432.3:c.79633T>A (TTN)	NP_597676.3:p.Ser26545Thr
NM_133437.4:c.79834T>A (TTN)	NP_597681.4:p.Ser26612Thr
NR_038271.1:n.446+6402A>T (TTN-AS1)
NR_038272.1:n.220-5694A>T (TTN-AS1)
XM_011511729.1:c.105550T>A (TTN)	XP_011510031.1:p.Ser35184Thr
XM_011511730.1:c.79444T>A (TTN)	XP_011510032.1:p.Ser26482Thr
XM_011511731.1:c.79303T>A (TTN)	XP_011510033.1:p.Ser26435Thr
XM_017004819.1:c.105346T>A (TTN)	XP_016860308.1:p.Ser35116Thr
XM_017004820.1:c.100744T>A (TTN)	XP_016860309.1:p.Ser33582Thr
XM_017004821.1:c.100741T>A (TTN)	XP_016860310.1:p.Ser33581Thr
XM_017004822.1:c.97783T>A (TTN)	XP_016860311.1:p.Ser32595Thr
XM_017004823.1:c.79399T>A (TTN)	XP_016860312.1:p.Ser26467Thr
XM_024453094.1:c.100894T>A (TTN)	XP_024308862.1:p.Ser33632Thr
XM_024453095.1:c.100891T>A (TTN)	XP_024308863.1:p.Ser33631Thr
XM_024453096.1:c.100324T>A (TTN)	XP_024308864.1:p.Ser33442Thr
XM_024453097.1:c.97666T>A (TTN)	XP_024308865.1:p.Ser32556Thr
XM_024453098.1:c.97585T>A (TTN)	XP_024308866.1:p.Ser32529Thr
XM_024453099.1:c.79348T>A (TTN)	XP_024308867.1:p.Ser26450Thr
XM_024453100.1:c.69202T>A (TTN)	XP_024308868.1:p.Ser23068Thr