Canonical Allele Identifier: CA349406214

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1423928961
• gnomAD v3: 2-178530311-C-A
• gnomAD v4: 2-178530311-C-A
• MyVariant Identifiers: chr2:g.179395038C>A (hg19) ; chr2:g.178530311C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530311C>A , CM000664.2:g.178530311C>A	GRCh38
NC_000002.11:g.179395038C>A , CM000664.1:g.179395038C>A	GRCh37
NC_000002.10:g.179103284C>A	NCBI36
NG_011618.3:g.305492G>T , LRG_391:g.305492G>T
NG_051363.1:g.12485C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98600G>T (TTN)	ENSP00000343764.6:p.Ser32867Ile
ENST00000342175.11:c.79685G>T (TTN)	ENSP00000340554.6:p.Ser26562Ile
ENST00000359218.10:c.79484G>T (TTN)	ENSP00000352154.5:p.Ser26495Ile
ENST00000342175.10:c.79685G>T (TTN)	ENSP00000340554.6:p.Ser26562Ile
ENST00000342992.10:c.98600G>T (TTN)	ENSP00000343764.6:p.Ser32867Ile
ENST00000359218.9:c.79484G>T (TTN)	ENSP00000352154.5:p.Ser26495Ile
ENST00000460472.6:c.79109G>T (TTN)	ENSP00000434586.1:p.Ser26370Ile
ENST00000589042.5:c.106304G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser35435Ile
ENST00000591111.5:c.101381G>T (TTN)	ENSP00000465570.1:p.Ser33794Ile
ENST00000615779.4:c.101381G>T (TTN)	ENSP00000483597.1:p.Ser33794Ile
NM_001256850.1:c.101381G>T (TTN)	NP_001243779.1:p.Ser33794Ile
NM_001267550.2:c.106304G>T (TTN) MANE Select	NP_001254479.2:p.Ser35435Ile
NM_003319.4:c.79109G>T (TTN)	NP_003310.4:p.Ser26370Ile
NM_133378.4:c.98600G>T (TTN)	NP_596869.4:p.Ser32867Ile
NM_133432.3:c.79484G>T (TTN)	NP_597676.3:p.Ser26495Ile
NM_133437.4:c.79685G>T (TTN)	NP_597681.4:p.Ser26562Ile
NR_038271.1:n.446+6675C>A (TTN-AS1)
NR_038272.1:n.220-5421C>A (TTN-AS1)
XM_011511729.1:c.105401G>T (TTN)	XP_011510031.1:p.Ser35134Ile
XM_011511730.1:c.79295G>T (TTN)	XP_011510032.1:p.Ser26432Ile
XM_011511731.1:c.79154G>T (TTN)	XP_011510033.1:p.Ser26385Ile
XM_017004819.1:c.105197G>T (TTN)	XP_016860308.1:p.Ser35066Ile
XM_017004820.1:c.100595G>T (TTN)	XP_016860309.1:p.Ser33532Ile
XM_017004821.1:c.100592G>T (TTN)	XP_016860310.1:p.Ser33531Ile
XM_017004822.1:c.97634G>T (TTN)	XP_016860311.1:p.Ser32545Ile
XM_017004823.1:c.79250G>T (TTN)	XP_016860312.1:p.Ser26417Ile
XM_024453094.1:c.100745G>T (TTN)	XP_024308862.1:p.Ser33582Ile
XM_024453095.1:c.100742G>T (TTN)	XP_024308863.1:p.Ser33581Ile
XM_024453096.1:c.100175G>T (TTN)	XP_024308864.1:p.Ser33392Ile
XM_024453097.1:c.97517G>T (TTN)	XP_024308865.1:p.Ser32506Ile
XM_024453098.1:c.97436G>T (TTN)	XP_024308866.1:p.Ser32479Ile
XM_024453099.1:c.79199G>T (TTN)	XP_024308867.1:p.Ser26400Ile
XM_024453100.1:c.69053G>T (TTN)	XP_024308868.1:p.Ser23018Ile