Canonical Allele Identifier: CA1991370

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2948800
• ClinVar RCV Id: RCV003809574
• dbSNP Id: rs756715989
• ExAC: 2:179444957 C / T
• gnomAD v2: 2-179444957-C-T
• gnomAD v4: 2-178580230-C-T
• MyVariant Identifiers: chr2:g.179444957C>T (hg19) ; chr2:g.178580230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178580230C>T , CM000664.2:g.178580230C>T	GRCh38
NC_000002.11:g.179444957C>T , CM000664.1:g.179444957C>T	GRCh37
NC_000002.10:g.179153203C>T	NCBI36
NG_011618.3:g.255573G>A , LRG_391:g.255573G>A
NG_051363.1:g.62404C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59354-1G>A (TTN)	ENSP00000343764.6:n.59354-1G>A
ENST00000342175.11:c.40439-1G>A (TTN)	ENSP00000340554.6:n.40439-1G>A
ENST00000359218.10:c.40238-1G>A (TTN)	ENSP00000352154.5:n.40238-1G>A
ENST00000342175.10:c.40439-1G>A (TTN)	ENSP00000340554.6:n.40439-1G>A
ENST00000342992.10:c.59354-1G>A (TTN)	ENSP00000343764.6:n.59354-1G>A
ENST00000359218.9:c.40238-1G>A (TTN)	ENSP00000352154.5:n.40238-1G>A
ENST00000460472.6:c.39863-1G>A (TTN)	ENSP00000434586.1:n.39863-1G>A
ENST00000589042.5:c.67058-1G>A (TTN) MANE Select	ENSP00000467141.1:n.67058-1G>A
ENST00000591111.5:c.62135-1G>A (TTN)	ENSP00000465570.1:n.62135-1G>A
ENST00000615779.4:c.62135-1G>A (TTN)	ENSP00000483597.1:n.62135-1G>A
NM_001256850.1:c.62135-1G>A (TTN)	NP_001243779.1:n.62135-1G>A
NM_001267550.2:c.67058-1G>A (TTN) MANE Select	NP_001254479.2:n.67058-1G>A
NM_003319.4:c.39863-1G>A (TTN)	NP_003310.4:n.39863-1G>A
NM_133378.4:c.59354-1G>A (TTN)	NP_596869.4:n.59354-1G>A
NM_133432.3:c.40238-1G>A (TTN)	NP_597676.3:n.40238-1G>A
NM_133437.4:c.40439-1G>A (TTN)	NP_597681.4:n.40439-1G>A
NR_038271.1:n.596+8781C>T (TTN-AS1)
NR_038272.1:n.2044-2342C>T (TTN-AS1)
XM_011511729.1:c.66155-1G>A (TTN)	XP_011510031.1:n.66155-1G>A
XM_011511730.1:c.40049-1G>A (TTN)	XP_011510032.1:n.40049-1G>A
XM_011511731.1:c.39908-1G>A (TTN)	XP_011510033.1:n.39908-1G>A
XM_017004819.1:c.65951-1G>A (TTN)	XP_016860308.1:n.65951-1G>A
XM_017004820.1:c.61349-1G>A (TTN)	XP_016860309.1:n.61349-1G>A
XM_017004821.1:c.61346-1G>A (TTN)	XP_016860310.1:n.61346-1G>A
XM_017004822.1:c.58388-1G>A (TTN)	XP_016860311.1:n.58388-1G>A
XM_017004823.1:c.40004-1G>A (TTN)	XP_016860312.1:n.40004-1G>A
XM_024453094.1:c.61499-1G>A (TTN)	XP_024308862.1:n.61499-1G>A
XM_024453095.1:c.61496-1G>A (TTN)	XP_024308863.1:n.61496-1G>A
XM_024453096.1:c.60929-1G>A (TTN)	XP_024308864.1:n.60929-1G>A
XM_024453097.1:c.58271-1G>A (TTN)	XP_024308865.1:n.58271-1G>A
XM_024453098.1:c.58190-1G>A (TTN)	XP_024308866.1:n.58190-1G>A
XM_024453099.1:c.39953-1G>A (TTN)	XP_024308867.1:n.39953-1G>A
XM_024453100.1:c.29807-1G>A (TTN)	XP_024308868.1:n.29807-1G>A