Canonical Allele Identifier: CA10604582

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 283742
• ClinVar RCV Id: RCV000301997 ; RCV003765612
• dbSNP Id: rs886042700
• gnomAD v4: 2-178573958-A-G
• MyVariant Identifiers: chr2:g.179438685A>G (hg19) ; chr2:g.178573958A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573958A>G , CM000664.2:g.178573958A>G	GRCh38
NC_000002.11:g.179438685A>G , CM000664.1:g.179438685A>G	GRCh37
NC_000002.10:g.179146931A>G	NCBI36
NG_011618.3:g.261845T>C , LRG_391:g.261845T>C
NG_051363.1:g.56132A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.64470T>C (TTN)	ENSP00000343764.6:p.Pro21490=
ENST00000342175.11:c.45555T>C (TTN)	ENSP00000340554.6:p.Pro15185=
ENST00000359218.10:c.45354T>C (TTN)	ENSP00000352154.5:p.Pro15118=
ENST00000342175.10:c.45555T>C (TTN)	ENSP00000340554.6:p.Pro15185=
ENST00000342992.10:c.64470T>C (TTN)	ENSP00000343764.6:p.Pro21490=
ENST00000359218.9:c.45354T>C (TTN)	ENSP00000352154.5:p.Pro15118=
ENST00000460472.6:c.44979T>C (TTN)	ENSP00000434586.1:p.Pro14993=
ENST00000589042.5:c.72174T>C (TTN) MANE Select	ENSP00000467141.1:p.Pro24058=
ENST00000591111.5:c.67251T>C (TTN)	ENSP00000465570.1:p.Pro22417=
ENST00000615779.4:c.67251T>C (TTN)	ENSP00000483597.1:p.Pro22417=
NM_001256850.1:c.67251T>C (TTN)	NP_001243779.1:p.Pro22417=
NM_001267550.2:c.72174T>C (TTN) MANE Select	NP_001254479.2:p.Pro24058=
NM_003319.4:c.44979T>C (TTN)	NP_003310.4:p.Pro14993=
NM_133378.4:c.64470T>C (TTN)	NP_596869.4:p.Pro21490=
NM_133432.3:c.45354T>C (TTN)	NP_597676.3:p.Pro15118=
NM_133437.4:c.45555T>C (TTN)	NP_597681.4:p.Pro15185=
NR_038271.1:n.596+2509A>G (TTN-AS1)
NR_038272.1:n.2044-8614A>G (TTN-AS1)
XM_011511729.1:c.71271T>C (TTN)	XP_011510031.1:p.Pro23757=
XM_011511730.1:c.45165T>C (TTN)	XP_011510032.1:p.Pro15055=
XM_011511731.1:c.45024T>C (TTN)	XP_011510033.1:p.Pro15008=
XM_017004819.1:c.71067T>C (TTN)	XP_016860308.1:p.Pro23689=
XM_017004820.1:c.66465T>C (TTN)	XP_016860309.1:p.Pro22155=
XM_017004821.1:c.66462T>C (TTN)	XP_016860310.1:p.Pro22154=
XM_017004822.1:c.63504T>C (TTN)	XP_016860311.1:p.Pro21168=
XM_017004823.1:c.45120T>C (TTN)	XP_016860312.1:p.Pro15040=
XM_024453094.1:c.66615T>C (TTN)	XP_024308862.1:p.Pro22205=
XM_024453095.1:c.66612T>C (TTN)	XP_024308863.1:p.Pro22204=
XM_024453096.1:c.66045T>C (TTN)	XP_024308864.1:p.Pro22015=
XM_024453097.1:c.63387T>C (TTN)	XP_024308865.1:p.Pro21129=
XM_024453098.1:c.63306T>C (TTN)	XP_024308866.1:p.Pro21102=
XM_024453099.1:c.45069T>C (TTN)	XP_024308867.1:p.Pro15023=
XM_024453100.1:c.34923T>C (TTN)	XP_024308868.1:p.Pro11641=