Canonical Allele Identifier: CA60996326

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1010492126
• gnomAD v2: 2-179435674-A-G
• gnomAD v4: 2-178570947-A-G
• MyVariant Identifiers: chr2:g.179435674A>G (hg19) ; chr2:g.178570947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570947A>G , CM000664.2:g.178570947A>G	GRCh38
NC_000002.11:g.179435674A>G , CM000664.1:g.179435674A>G	GRCh37
NC_000002.10:g.179143920A>G	NCBI36
NG_011618.3:g.264856T>C , LRG_391:g.264856T>C
NG_051363.1:g.53121A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67481T>C (TTN)	ENSP00000343764.6:p.Ile22494Thr
ENST00000342175.11:c.48566T>C (TTN)	ENSP00000340554.6:p.Ile16189Thr
ENST00000359218.10:c.48365T>C (TTN)	ENSP00000352154.5:p.Ile16122Thr
ENST00000342175.10:c.48566T>C (TTN)	ENSP00000340554.6:p.Ile16189Thr
ENST00000342992.10:c.67481T>C (TTN)	ENSP00000343764.6:p.Ile22494Thr
ENST00000359218.9:c.48365T>C (TTN)	ENSP00000352154.5:p.Ile16122Thr
ENST00000460472.6:c.47990T>C (TTN)	ENSP00000434586.1:p.Ile15997Thr
ENST00000589042.5:c.75185T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile25062Thr
ENST00000591111.5:c.70262T>C (TTN)	ENSP00000465570.1:p.Ile23421Thr
ENST00000615779.4:c.70262T>C (TTN)	ENSP00000483597.1:p.Ile23421Thr
NM_001256850.1:c.70262T>C (TTN)	NP_001243779.1:p.Ile23421Thr
NM_001267550.2:c.75185T>C (TTN) MANE Select	NP_001254479.2:p.Ile25062Thr
NM_003319.4:c.47990T>C (TTN)	NP_003310.4:p.Ile15997Thr
NM_133378.4:c.67481T>C (TTN)	NP_596869.4:p.Ile22494Thr
NM_133432.3:c.48365T>C (TTN)	NP_597676.3:p.Ile16122Thr
NM_133437.4:c.48566T>C (TTN)	NP_597681.4:p.Ile16189Thr
NR_038271.1:n.447-353A>G (TTN-AS1)
NR_038272.1:n.2044-11625A>G (TTN-AS1)
XM_011511729.1:c.74282T>C (TTN)	XP_011510031.1:p.Ile24761Thr
XM_011511730.1:c.48176T>C (TTN)	XP_011510032.1:p.Ile16059Thr
XM_011511731.1:c.48035T>C (TTN)	XP_011510033.1:p.Ile16012Thr
XM_017004819.1:c.74078T>C (TTN)	XP_016860308.1:p.Ile24693Thr
XM_017004820.1:c.69476T>C (TTN)	XP_016860309.1:p.Ile23159Thr
XM_017004821.1:c.69473T>C (TTN)	XP_016860310.1:p.Ile23158Thr
XM_017004822.1:c.66515T>C (TTN)	XP_016860311.1:p.Ile22172Thr
XM_017004823.1:c.48131T>C (TTN)	XP_016860312.1:p.Ile16044Thr
XM_024453094.1:c.69626T>C (TTN)	XP_024308862.1:p.Ile23209Thr
XM_024453095.1:c.69623T>C (TTN)	XP_024308863.1:p.Ile23208Thr
XM_024453096.1:c.69056T>C (TTN)	XP_024308864.1:p.Ile23019Thr
XM_024453097.1:c.66398T>C (TTN)	XP_024308865.1:p.Ile22133Thr
XM_024453098.1:c.66317T>C (TTN)	XP_024308866.1:p.Ile22106Thr
XM_024453099.1:c.48080T>C (TTN)	XP_024308867.1:p.Ile16027Thr
XM_024453100.1:c.37934T>C (TTN)	XP_024308868.1:p.Ile12645Thr