Canonical Allele Identifier: CA16610389

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404894
• ClinVar RCV Id: RCV000473815
• dbSNP Id: rs1060500483
• MyVariant Identifiers: chr2:g.179446224A>T (hg19) ; chr2:g.178581497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178581497A>T , CM000664.2:g.178581497A>T	GRCh38
NC_000002.11:g.179446224A>T , CM000664.1:g.179446224A>T	GRCh37
NC_000002.10:g.179154470A>T	NCBI36
NG_011618.3:g.254306T>A , LRG_391:g.254306T>A
NG_051363.1:g.63671A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59065+2T>A (TTN)	ENSP00000343764.6:n.59065+2T>A
ENST00000342175.11:c.40150+2T>A (TTN)	ENSP00000340554.6:n.40150+2T>A
ENST00000359218.10:c.39949+2T>A (TTN)	ENSP00000352154.5:n.39949+2T>A
ENST00000342175.10:c.40150+2T>A (TTN)	ENSP00000340554.6:n.40150+2T>A
ENST00000342992.10:c.59065+2T>A (TTN)	ENSP00000343764.6:n.59065+2T>A
ENST00000359218.9:c.39949+2T>A (TTN)	ENSP00000352154.5:n.39949+2T>A
ENST00000460472.6:c.39574+2T>A (TTN)	ENSP00000434586.1:n.39574+2T>A
ENST00000589042.5:c.66769+2T>A (TTN) MANE Select	ENSP00000467141.1:n.66769+2T>A
ENST00000591111.5:c.61846+2T>A (TTN)	ENSP00000465570.1:n.61846+2T>A
ENST00000615779.4:c.61846+2T>A (TTN)	ENSP00000483597.1:n.61846+2T>A
NM_001256850.1:c.61846+2T>A (TTN)	NP_001243779.1:n.61846+2T>A
NM_001267550.2:c.66769+2T>A (TTN) MANE Select	NP_001254479.2:n.66769+2T>A
NM_003319.4:c.39574+2T>A (TTN)	NP_003310.4:n.39574+2T>A
NM_133378.4:c.59065+2T>A (TTN)	NP_596869.4:n.59065+2T>A
NM_133432.3:c.39949+2T>A (TTN)	NP_597676.3:n.39949+2T>A
NM_133437.4:c.40150+2T>A (TTN)	NP_597681.4:n.40150+2T>A
NR_038271.1:n.596+10048A>T (TTN-AS1)
NR_038272.1:n.2044-1075A>T (TTN-AS1)
XM_011511729.1:c.65866+2T>A (TTN)	XP_011510031.1:n.65866+2T>A
XM_011511730.1:c.39760+2T>A (TTN)	XP_011510032.1:n.39760+2T>A
XM_011511731.1:c.39619+2T>A (TTN)	XP_011510033.1:n.39619+2T>A
XM_017004819.1:c.65662+2T>A (TTN)	XP_016860308.1:n.65662+2T>A
XM_017004820.1:c.61060+2T>A (TTN)	XP_016860309.1:n.61060+2T>A
XM_017004821.1:c.61057+2T>A (TTN)	XP_016860310.1:n.61057+2T>A
XM_017004822.1:c.58099+2T>A (TTN)	XP_016860311.1:n.58099+2T>A
XM_017004823.1:c.39715+2T>A (TTN)	XP_016860312.1:n.39715+2T>A
XM_024453094.1:c.61210+2T>A (TTN)	XP_024308862.1:n.61210+2T>A
XM_024453095.1:c.61207+2T>A (TTN)	XP_024308863.1:n.61207+2T>A
XM_024453096.1:c.60640+2T>A (TTN)	XP_024308864.1:n.60640+2T>A
XM_024453097.1:c.57982+2T>A (TTN)	XP_024308865.1:n.57982+2T>A
XM_024453098.1:c.57901+2T>A (TTN)	XP_024308866.1:n.57901+2T>A
XM_024453099.1:c.39664+2T>A (TTN)	XP_024308867.1:n.39664+2T>A
XM_024453100.1:c.29518+2T>A (TTN)	XP_024308868.1:n.29518+2T>A