Canonical Allele Identifier: CA349472581

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2437806
• ClinVar RCV Id: RCV003136972
• dbSNP Id: rs554140295
• gnomAD v2: 2-179411599-G-T
• gnomAD v3: 2-178546872-G-T
• gnomAD v4: 2-178546872-G-T
• MyVariant Identifiers: chr2:g.179411599G>T (hg19) ; chr2:g.178546872G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546872G>T , CM000664.2:g.178546872G>T	GRCh38
NC_000002.11:g.179411599G>T , CM000664.1:g.179411599G>T	GRCh37
NC_000002.10:g.179119845G>T	NCBI36
NG_011618.3:g.288931C>A , LRG_391:g.288931C>A
NG_051363.1:g.29046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86852C>A (TTN)	ENSP00000343764.6:p.Thr28951Lys
ENST00000342175.11:c.67937C>A (TTN)	ENSP00000340554.6:p.Thr22646Lys
ENST00000359218.10:c.67736C>A (TTN)	ENSP00000352154.5:p.Thr22579Lys
ENST00000342175.10:c.67937C>A (TTN)	ENSP00000340554.6:p.Thr22646Lys
ENST00000342992.10:c.86852C>A (TTN)	ENSP00000343764.6:p.Thr28951Lys
ENST00000359218.9:c.67736C>A (TTN)	ENSP00000352154.5:p.Thr22579Lys
ENST00000460472.6:c.67361C>A (TTN)	ENSP00000434586.1:p.Thr22454Lys
ENST00000589042.5:c.94556C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr31519Lys
ENST00000591111.5:c.89633C>A (TTN)	ENSP00000465570.1:p.Thr29878Lys
ENST00000615779.4:c.89633C>A (TTN)	ENSP00000483597.1:p.Thr29878Lys
NM_001256850.1:c.89633C>A (TTN)	NP_001243779.1:p.Thr29878Lys
NM_001267550.2:c.94556C>A (TTN) MANE Select	NP_001254479.2:p.Thr31519Lys
NM_003319.4:c.67361C>A (TTN)	NP_003310.4:p.Thr22454Lys
NM_133378.4:c.86852C>A (TTN)	NP_596869.4:p.Thr28951Lys
NM_133432.3:c.67736C>A (TTN)	NP_597676.3:p.Thr22579Lys
NM_133437.4:c.67937C>A (TTN)	NP_597681.4:p.Thr22646Lys
NR_038271.1:n.446+23236G>T (TTN-AS1)
NR_038272.1:n.2043+4511G>T (TTN-AS1)
XM_011511729.1:c.93653C>A (TTN)	XP_011510031.1:p.Thr31218Lys
XM_011511730.1:c.67547C>A (TTN)	XP_011510032.1:p.Thr22516Lys
XM_011511731.1:c.67406C>A (TTN)	XP_011510033.1:p.Thr22469Lys
XM_017004819.1:c.93449C>A (TTN)	XP_016860308.1:p.Thr31150Lys
XM_017004820.1:c.88847C>A (TTN)	XP_016860309.1:p.Thr29616Lys
XM_017004821.1:c.88844C>A (TTN)	XP_016860310.1:p.Thr29615Lys
XM_017004822.1:c.85886C>A (TTN)	XP_016860311.1:p.Thr28629Lys
XM_017004823.1:c.67502C>A (TTN)	XP_016860312.1:p.Thr22501Lys
XM_024453094.1:c.88997C>A (TTN)	XP_024308862.1:p.Thr29666Lys
XM_024453095.1:c.88994C>A (TTN)	XP_024308863.1:p.Thr29665Lys
XM_024453096.1:c.88427C>A (TTN)	XP_024308864.1:p.Thr29476Lys
XM_024453097.1:c.85769C>A (TTN)	XP_024308865.1:p.Thr28590Lys
XM_024453098.1:c.85688C>A (TTN)	XP_024308866.1:p.Thr28563Lys
XM_024453099.1:c.67451C>A (TTN)	XP_024308867.1:p.Thr22484Lys
XM_024453100.1:c.57305C>A (TTN)	XP_024308868.1:p.Thr19102Lys