Canonical Allele Identifier: CA60970498

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 808911
• ClinVar RCV Id: RCV000997347
• dbSNP Id: rs966964393
• gnomAD v2: 2-179408939-A-G
• gnomAD v4: 2-178544212-A-G
• MyVariant Identifiers: chr2:g.179408939A>G (hg19) ; chr2:g.178544212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544212A>G , CM000664.2:g.178544212A>G	GRCh38
NC_000002.11:g.179408939A>G , CM000664.1:g.179408939A>G	GRCh37
NC_000002.10:g.179117185A>G	NCBI36
NG_011618.3:g.291591T>C , LRG_391:g.291591T>C
NG_051363.1:g.26386A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88313T>C (TTN)	ENSP00000343764.6:p.Val29438Ala
ENST00000342175.11:c.69398T>C (TTN)	ENSP00000340554.6:p.Val23133Ala
ENST00000359218.10:c.69197T>C (TTN)	ENSP00000352154.5:p.Val23066Ala
ENST00000342175.10:c.69398T>C (TTN)	ENSP00000340554.6:p.Val23133Ala
ENST00000342992.10:c.88313T>C (TTN)	ENSP00000343764.6:p.Val29438Ala
ENST00000359218.9:c.69197T>C (TTN)	ENSP00000352154.5:p.Val23066Ala
ENST00000460472.6:c.68822T>C (TTN)	ENSP00000434586.1:p.Val22941Ala
ENST00000589042.5:c.96017T>C (TTN) MANE Select	ENSP00000467141.1:p.Val32006Ala
ENST00000591111.5:c.91094T>C (TTN)	ENSP00000465570.1:p.Val30365Ala
ENST00000615779.4:c.91094T>C (TTN)	ENSP00000483597.1:p.Val30365Ala
NM_001256850.1:c.91094T>C (TTN)	NP_001243779.1:p.Val30365Ala
NM_001267550.2:c.96017T>C (TTN) MANE Select	NP_001254479.2:p.Val32006Ala
NM_003319.4:c.68822T>C (TTN)	NP_003310.4:p.Val22941Ala
NM_133378.4:c.88313T>C (TTN)	NP_596869.4:p.Val29438Ala
NM_133432.3:c.69197T>C (TTN)	NP_597676.3:p.Val23066Ala
NM_133437.4:c.69398T>C (TTN)	NP_597681.4:p.Val23133Ala
NR_038271.1:n.446+20576A>G (TTN-AS1)
NR_038272.1:n.2043+1851A>G (TTN-AS1)
XM_011511729.1:c.95114T>C (TTN)	XP_011510031.1:p.Val31705Ala
XM_011511730.1:c.69008T>C (TTN)	XP_011510032.1:p.Val23003Ala
XM_011511731.1:c.68867T>C (TTN)	XP_011510033.1:p.Val22956Ala
XM_017004819.1:c.94910T>C (TTN)	XP_016860308.1:p.Val31637Ala
XM_017004820.1:c.90308T>C (TTN)	XP_016860309.1:p.Val30103Ala
XM_017004821.1:c.90305T>C (TTN)	XP_016860310.1:p.Val30102Ala
XM_017004822.1:c.87347T>C (TTN)	XP_016860311.1:p.Val29116Ala
XM_017004823.1:c.68963T>C (TTN)	XP_016860312.1:p.Val22988Ala
XM_024453094.1:c.90458T>C (TTN)	XP_024308862.1:p.Val30153Ala
XM_024453095.1:c.90455T>C (TTN)	XP_024308863.1:p.Val30152Ala
XM_024453096.1:c.89888T>C (TTN)	XP_024308864.1:p.Val29963Ala
XM_024453097.1:c.87230T>C (TTN)	XP_024308865.1:p.Val29077Ala
XM_024453098.1:c.87149T>C (TTN)	XP_024308866.1:p.Val29050Ala
XM_024453099.1:c.68912T>C (TTN)	XP_024308867.1:p.Val22971Ala
XM_024453100.1:c.58766T>C (TTN)	XP_024308868.1:p.Val19589Ala