Canonical Allele Identifier: CA16042411

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 372824
• ClinVar RCV Id: RCV000412765 ; RCV001045728 ; RCV002402100
• dbSNP Id: rs1057518003
• gnomAD v4: 2-178531962-G-A
• MyVariant Identifiers: chr2:g.179396689G>A (hg19) ; chr2:g.178531962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178531962G>A , CM000664.2:g.178531962G>A	GRCh38
NC_000002.11:g.179396689G>A , CM000664.1:g.179396689G>A	GRCh37
NC_000002.10:g.179104935G>A	NCBI36
NG_011618.3:g.303841C>T , LRG_391:g.303841C>T
NG_051363.1:g.14136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96949C>T (TTN)	ENSP00000343764.6:p.Arg32317Ter
ENST00000342175.11:c.78034C>T (TTN)	ENSP00000340554.6:p.Arg26012Ter
ENST00000359218.10:c.77833C>T (TTN)	ENSP00000352154.5:p.Arg25945Ter
ENST00000342175.10:c.78034C>T (TTN)	ENSP00000340554.6:p.Arg26012Ter
ENST00000342992.10:c.96949C>T (TTN)	ENSP00000343764.6:p.Arg32317Ter
ENST00000359218.9:c.77833C>T (TTN)	ENSP00000352154.5:p.Arg25945Ter
ENST00000460472.6:c.77458C>T (TTN)	ENSP00000434586.1:p.Arg25820Ter
ENST00000589042.5:c.104653C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg34885Ter
ENST00000591111.5:c.99730C>T (TTN)	ENSP00000465570.1:p.Arg33244Ter
ENST00000615779.4:c.99730C>T (TTN)	ENSP00000483597.1:p.Arg33244Ter
NM_001256850.1:c.99730C>T (TTN)	NP_001243779.1:p.Arg33244Ter
NM_001267550.2:c.104653C>T (TTN) MANE Select	NP_001254479.2:p.Arg34885Ter
NM_003319.4:c.77458C>T (TTN)	NP_003310.4:p.Arg25820Ter
NM_133378.4:c.96949C>T (TTN)	NP_596869.4:p.Arg32317Ter
NM_133432.3:c.77833C>T (TTN)	NP_597676.3:p.Arg25945Ter
NM_133437.4:c.78034C>T (TTN)	NP_597681.4:p.Arg26012Ter
NR_038271.1:n.446+8326G>A (TTN-AS1)
NR_038272.1:n.220-3770G>A (TTN-AS1)
XM_011511729.1:c.103750C>T (TTN)	XP_011510031.1:p.Arg34584Ter
XM_011511730.1:c.77644C>T (TTN)	XP_011510032.1:p.Arg25882Ter
XM_011511731.1:c.77503C>T (TTN)	XP_011510033.1:p.Arg25835Ter
XM_017004819.1:c.103546C>T (TTN)	XP_016860308.1:p.Arg34516Ter
XM_017004820.1:c.98944C>T (TTN)	XP_016860309.1:p.Arg32982Ter
XM_017004821.1:c.98941C>T (TTN)	XP_016860310.1:p.Arg32981Ter
XM_017004822.1:c.95983C>T (TTN)	XP_016860311.1:p.Arg31995Ter
XM_017004823.1:c.77599C>T (TTN)	XP_016860312.1:p.Arg25867Ter
XM_024453094.1:c.99094C>T (TTN)	XP_024308862.1:p.Arg33032Ter
XM_024453095.1:c.99091C>T (TTN)	XP_024308863.1:p.Arg33031Ter
XM_024453096.1:c.98524C>T (TTN)	XP_024308864.1:p.Arg32842Ter
XM_024453097.1:c.95866C>T (TTN)	XP_024308865.1:p.Arg31956Ter
XM_024453098.1:c.95785C>T (TTN)	XP_024308866.1:p.Arg31929Ter
XM_024453099.1:c.77548C>T (TTN)	XP_024308867.1:p.Arg25850Ter
XM_024453100.1:c.67402C>T (TTN)	XP_024308868.1:p.Arg22468Ter