Canonical Allele Identifier: CA349609475

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535058
• ClinVar RCV Id: RCV000642823
• dbSNP Id: rs1553705079
• MyVariant Identifiers: chr2:g.179480213T>G (hg19) ; chr2:g.178615486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178615486T>G , CM000664.2:g.178615486T>G	GRCh38
NC_000002.11:g.179480213T>G , CM000664.1:g.179480213T>G	GRCh37
NC_000002.10:g.179188458T>G	NCBI36
NG_011618.3:g.220317A>C , LRG_391:g.220317A>C
NG_051363.1:g.97660T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.40757-2A>C (TTN)	ENSP00000343764.6:n.40757-2A>C
ENST00000342175.11:c.21842-2A>C (TTN)	ENSP00000340554.6:n.21842-2A>C
ENST00000359218.10:c.21641-2A>C (TTN)	ENSP00000352154.5:n.21641-2A>C
ENST00000342175.10:c.21842-2A>C (TTN)	ENSP00000340554.6:n.21842-2A>C
ENST00000342992.10:c.40757-2A>C (TTN)	ENSP00000343764.6:n.40757-2A>C
ENST00000359218.9:c.21641-2A>C (TTN)	ENSP00000352154.5:n.21641-2A>C
ENST00000460472.6:c.21266-2A>C (TTN)	ENSP00000434586.1:n.21266-2A>C
ENST00000589042.5:c.48461-2A>C (TTN) MANE Select	ENSP00000467141.1:n.48461-2A>C
ENST00000591111.5:c.43538-2A>C (TTN)	ENSP00000465570.1:n.43538-2A>C
ENST00000615779.4:c.43538-2A>C (TTN)	ENSP00000483597.1:n.43538-2A>C
NM_001256850.1:c.43538-2A>C (TTN)	NP_001243779.1:n.43538-2A>C
NM_001267550.2:c.48461-2A>C (TTN) MANE Select	NP_001254479.2:n.48461-2A>C
NM_003319.4:c.21266-2A>C (TTN)	NP_003310.4:n.21266-2A>C
NM_133378.4:c.40757-2A>C (TTN)	NP_596869.4:n.40757-2A>C
NM_133432.3:c.21641-2A>C (TTN)	NP_597676.3:n.21641-2A>C
NM_133437.4:c.21842-2A>C (TTN)	NP_597681.4:n.21842-2A>C
NR_038271.1:n.1604+112T>G (TTN-AS1)
XM_011511729.1:c.47558-2A>C (TTN)	XP_011510031.1:n.47558-2A>C
XM_011511730.1:c.21452-2A>C (TTN)	XP_011510032.1:n.21452-2A>C
XM_011511731.1:c.21311-2A>C (TTN)	XP_011510033.1:n.21311-2A>C
XM_017004819.1:c.47354-2A>C (TTN)	XP_016860308.1:n.47354-2A>C
XM_017004820.1:c.42752-2A>C (TTN)	XP_016860309.1:n.42752-2A>C
XM_017004821.1:c.42749-2A>C (TTN)	XP_016860310.1:n.42749-2A>C
XM_017004822.1:c.39791-2A>C (TTN)	XP_016860311.1:n.39791-2A>C
XM_017004823.1:c.21407-2A>C (TTN)	XP_016860312.1:n.21407-2A>C
XM_024453094.1:c.42902-2A>C (TTN)	XP_024308862.1:n.42902-2A>C
XM_024453095.1:c.42899-2A>C (TTN)	XP_024308863.1:n.42899-2A>C
XM_024453096.1:c.42332-2A>C (TTN)	XP_024308864.1:n.42332-2A>C
XM_024453097.1:c.39674-2A>C (TTN)	XP_024308865.1:n.39674-2A>C
XM_024453098.1:c.39593-2A>C (TTN)	XP_024308866.1:n.39593-2A>C
XM_024453099.1:c.21356-2A>C (TTN)	XP_024308867.1:n.21356-2A>C
XM_024453100.1:c.11210-2A>C (TTN)	XP_024308868.1:n.11210-2A>C