Canonical Allele Identifier: CA16610323

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 405190
• ClinVar RCV Id: RCV000462005
• dbSNP Id: rs1060500595
• gnomAD v2: 2-179408024-G-T
• gnomAD v4: 2-178543297-G-T
• MyVariant Identifiers: chr2:g.179408024G>T (hg19) ; chr2:g.178543297G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543297G>T , CM000664.2:g.178543297G>T	GRCh38
NC_000002.11:g.179408024G>T , CM000664.1:g.179408024G>T	GRCh37
NC_000002.10:g.179116270G>T	NCBI36
NG_011618.3:g.292506C>A , LRG_391:g.292506C>A
NG_051363.1:g.25471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88972C>A (TTN)	ENSP00000343764.6:p.Pro29658Thr
ENST00000342175.11:c.70057C>A (TTN)	ENSP00000340554.6:p.Pro23353Thr
ENST00000359218.10:c.69856C>A (TTN)	ENSP00000352154.5:p.Pro23286Thr
ENST00000342175.10:c.70057C>A (TTN)	ENSP00000340554.6:p.Pro23353Thr
ENST00000342992.10:c.88972C>A (TTN)	ENSP00000343764.6:p.Pro29658Thr
ENST00000359218.9:c.69856C>A (TTN)	ENSP00000352154.5:p.Pro23286Thr
ENST00000460472.6:c.69481C>A (TTN)	ENSP00000434586.1:p.Pro23161Thr
ENST00000589042.5:c.96676C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro32226Thr
ENST00000591111.5:c.91753C>A (TTN)	ENSP00000465570.1:p.Pro30585Thr
ENST00000615779.4:c.91753C>A (TTN)	ENSP00000483597.1:p.Pro30585Thr
NM_001256850.1:c.91753C>A (TTN)	NP_001243779.1:p.Pro30585Thr
NM_001267550.2:c.96676C>A (TTN) MANE Select	NP_001254479.2:p.Pro32226Thr
NM_003319.4:c.69481C>A (TTN)	NP_003310.4:p.Pro23161Thr
NM_133378.4:c.88972C>A (TTN)	NP_596869.4:p.Pro29658Thr
NM_133432.3:c.69856C>A (TTN)	NP_597676.3:p.Pro23286Thr
NM_133437.4:c.70057C>A (TTN)	NP_597681.4:p.Pro23353Thr
NR_038271.1:n.446+19661G>T (TTN-AS1)
NR_038272.1:n.2043+936G>T (TTN-AS1)
XM_011511729.1:c.95773C>A (TTN)	XP_011510031.1:p.Pro31925Thr
XM_011511730.1:c.69667C>A (TTN)	XP_011510032.1:p.Pro23223Thr
XM_011511731.1:c.69526C>A (TTN)	XP_011510033.1:p.Pro23176Thr
XM_017004819.1:c.95569C>A (TTN)	XP_016860308.1:p.Pro31857Thr
XM_017004820.1:c.90967C>A (TTN)	XP_016860309.1:p.Pro30323Thr
XM_017004821.1:c.90964C>A (TTN)	XP_016860310.1:p.Pro30322Thr
XM_017004822.1:c.88006C>A (TTN)	XP_016860311.1:p.Pro29336Thr
XM_017004823.1:c.69622C>A (TTN)	XP_016860312.1:p.Pro23208Thr
XM_024453094.1:c.91117C>A (TTN)	XP_024308862.1:p.Pro30373Thr
XM_024453095.1:c.91114C>A (TTN)	XP_024308863.1:p.Pro30372Thr
XM_024453096.1:c.90547C>A (TTN)	XP_024308864.1:p.Pro30183Thr
XM_024453097.1:c.87889C>A (TTN)	XP_024308865.1:p.Pro29297Thr
XM_024453098.1:c.87808C>A (TTN)	XP_024308866.1:p.Pro29270Thr
XM_024453099.1:c.69571C>A (TTN)	XP_024308867.1:p.Pro23191Thr
XM_024453100.1:c.59425C>A (TTN)	XP_024308868.1:p.Pro19809Thr