Canonical Allele Identifier: CA349405488

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530086-A-G
• MyVariant Identifiers: chr2:g.179394813A>G (hg19) ; chr2:g.178530086A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530086A>G , CM000664.2:g.178530086A>G	GRCh38
NC_000002.11:g.179394813A>G , CM000664.1:g.179394813A>G	GRCh37
NC_000002.10:g.179103059A>G	NCBI36
NG_011618.3:g.305717T>C , LRG_391:g.305717T>C
NG_051363.1:g.12260A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98701T>C (TTN)	ENSP00000343764.6:p.Ser32901Pro
ENST00000342175.11:c.79786T>C (TTN)	ENSP00000340554.6:p.Ser26596Pro
ENST00000359218.10:c.79585T>C (TTN)	ENSP00000352154.5:p.Ser26529Pro
ENST00000342175.10:c.79786T>C (TTN)	ENSP00000340554.6:p.Ser26596Pro
ENST00000342992.10:c.98701T>C (TTN)	ENSP00000343764.6:p.Ser32901Pro
ENST00000359218.9:c.79585T>C (TTN)	ENSP00000352154.5:p.Ser26529Pro
ENST00000460472.6:c.79210T>C (TTN)	ENSP00000434586.1:p.Ser26404Pro
ENST00000589042.5:c.106405T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser35469Pro
ENST00000591111.5:c.101482T>C (TTN)	ENSP00000465570.1:p.Ser33828Pro
ENST00000615779.4:c.101482T>C (TTN)	ENSP00000483597.1:p.Ser33828Pro
NM_001256850.1:c.101482T>C (TTN)	NP_001243779.1:p.Ser33828Pro
NM_001267550.2:c.106405T>C (TTN) MANE Select	NP_001254479.2:p.Ser35469Pro
NM_003319.4:c.79210T>C (TTN)	NP_003310.4:p.Ser26404Pro
NM_133378.4:c.98701T>C (TTN)	NP_596869.4:p.Ser32901Pro
NM_133432.3:c.79585T>C (TTN)	NP_597676.3:p.Ser26529Pro
NM_133437.4:c.79786T>C (TTN)	NP_597681.4:p.Ser26596Pro
NR_038271.1:n.446+6450A>G (TTN-AS1)
NR_038272.1:n.220-5646A>G (TTN-AS1)
XM_011511729.1:c.105502T>C (TTN)	XP_011510031.1:p.Ser35168Pro
XM_011511730.1:c.79396T>C (TTN)	XP_011510032.1:p.Ser26466Pro
XM_011511731.1:c.79255T>C (TTN)	XP_011510033.1:p.Ser26419Pro
XM_017004819.1:c.105298T>C (TTN)	XP_016860308.1:p.Ser35100Pro
XM_017004820.1:c.100696T>C (TTN)	XP_016860309.1:p.Ser33566Pro
XM_017004821.1:c.100693T>C (TTN)	XP_016860310.1:p.Ser33565Pro
XM_017004822.1:c.97735T>C (TTN)	XP_016860311.1:p.Ser32579Pro
XM_017004823.1:c.79351T>C (TTN)	XP_016860312.1:p.Ser26451Pro
XM_024453094.1:c.100846T>C (TTN)	XP_024308862.1:p.Ser33616Pro
XM_024453095.1:c.100843T>C (TTN)	XP_024308863.1:p.Ser33615Pro
XM_024453096.1:c.100276T>C (TTN)	XP_024308864.1:p.Ser33426Pro
XM_024453097.1:c.97618T>C (TTN)	XP_024308865.1:p.Ser32540Pro
XM_024453098.1:c.97537T>C (TTN)	XP_024308866.1:p.Ser32513Pro
XM_024453099.1:c.79300T>C (TTN)	XP_024308867.1:p.Ser26434Pro
XM_024453100.1:c.69154T>C (TTN)	XP_024308868.1:p.Ser23052Pro