Canonical Allele Identifier: CA60953022

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466753
• ClinVar RCV Id: RCV000548181 ; RCV000769846
• dbSNP Id: rs766337455
• gnomAD v3: 2-178530052-T-C
• gnomAD v4: 2-178530052-T-C
• MyVariant Identifiers: chr2:g.179394779T>C (hg19) ; chr2:g.178530052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530052T>C , CM000664.2:g.178530052T>C	GRCh38
NC_000002.11:g.179394779T>C , CM000664.1:g.179394779T>C	GRCh37
NC_000002.10:g.179103025T>C	NCBI36
NG_011618.3:g.305751A>G , LRG_391:g.305751A>G
NG_051363.1:g.12226T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98735A>G (TTN)	ENSP00000343764.6:p.His32912Arg
ENST00000342175.11:c.79820A>G (TTN)	ENSP00000340554.6:p.His26607Arg
ENST00000359218.10:c.79619A>G (TTN)	ENSP00000352154.5:p.His26540Arg
ENST00000342175.10:c.79820A>G (TTN)	ENSP00000340554.6:p.His26607Arg
ENST00000342992.10:c.98735A>G (TTN)	ENSP00000343764.6:p.His32912Arg
ENST00000359218.9:c.79619A>G (TTN)	ENSP00000352154.5:p.His26540Arg
ENST00000460472.6:c.79244A>G (TTN)	ENSP00000434586.1:p.His26415Arg
ENST00000589042.5:c.106439A>G (TTN) MANE Select	ENSP00000467141.1:p.His35480Arg
ENST00000591111.5:c.101516A>G (TTN)	ENSP00000465570.1:p.His33839Arg
ENST00000615779.4:c.101516A>G (TTN)	ENSP00000483597.1:p.His33839Arg
NM_001256850.1:c.101516A>G (TTN)	NP_001243779.1:p.His33839Arg
NM_001267550.2:c.106439A>G (TTN) MANE Select	NP_001254479.2:p.His35480Arg
NM_003319.4:c.79244A>G (TTN)	NP_003310.4:p.His26415Arg
NM_133378.4:c.98735A>G (TTN)	NP_596869.4:p.His32912Arg
NM_133432.3:c.79619A>G (TTN)	NP_597676.3:p.His26540Arg
NM_133437.4:c.79820A>G (TTN)	NP_597681.4:p.His26607Arg
NR_038271.1:n.446+6416T>C (TTN-AS1)
NR_038272.1:n.220-5680T>C (TTN-AS1)
XM_011511729.1:c.105536A>G (TTN)	XP_011510031.1:p.His35179Arg
XM_011511730.1:c.79430A>G (TTN)	XP_011510032.1:p.His26477Arg
XM_011511731.1:c.79289A>G (TTN)	XP_011510033.1:p.His26430Arg
XM_017004819.1:c.105332A>G (TTN)	XP_016860308.1:p.His35111Arg
XM_017004820.1:c.100730A>G (TTN)	XP_016860309.1:p.His33577Arg
XM_017004821.1:c.100727A>G (TTN)	XP_016860310.1:p.His33576Arg
XM_017004822.1:c.97769A>G (TTN)	XP_016860311.1:p.His32590Arg
XM_017004823.1:c.79385A>G (TTN)	XP_016860312.1:p.His26462Arg
XM_024453094.1:c.100880A>G (TTN)	XP_024308862.1:p.His33627Arg
XM_024453095.1:c.100877A>G (TTN)	XP_024308863.1:p.His33626Arg
XM_024453096.1:c.100310A>G (TTN)	XP_024308864.1:p.His33437Arg
XM_024453097.1:c.97652A>G (TTN)	XP_024308865.1:p.His32551Arg
XM_024453098.1:c.97571A>G (TTN)	XP_024308866.1:p.His32524Arg
XM_024453099.1:c.79334A>G (TTN)	XP_024308867.1:p.His26445Arg
XM_024453100.1:c.69188A>G (TTN)	XP_024308868.1:p.His23063Arg