Canonical Allele Identifier: CA349407207

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2933743
• ClinVar RCV Id: RCV003793301
• dbSNP Id: rs1688680351
• gnomAD v3: 2-178530596-C-G
• gnomAD v4: 2-178530596-C-G
• MyVariant Identifiers: chr2:g.179395323C>G (hg19) ; chr2:g.178530596C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530596C>G , CM000664.2:g.178530596C>G	GRCh38
NC_000002.11:g.179395323C>G , CM000664.1:g.179395323C>G	GRCh37
NC_000002.10:g.179103569C>G	NCBI36
NG_011618.3:g.305207G>C , LRG_391:g.305207G>C
NG_051363.1:g.12770C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98315G>C (TTN)	ENSP00000343764.6:p.Gly32772Ala
ENST00000342175.11:c.79400G>C (TTN)	ENSP00000340554.6:p.Gly26467Ala
ENST00000359218.10:c.79199G>C (TTN)	ENSP00000352154.5:p.Gly26400Ala
ENST00000342175.10:c.79400G>C (TTN)	ENSP00000340554.6:p.Gly26467Ala
ENST00000342992.10:c.98315G>C (TTN)	ENSP00000343764.6:p.Gly32772Ala
ENST00000359218.9:c.79199G>C (TTN)	ENSP00000352154.5:p.Gly26400Ala
ENST00000460472.6:c.78824G>C (TTN)	ENSP00000434586.1:p.Gly26275Ala
ENST00000589042.5:c.106019G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly35340Ala
ENST00000591111.5:c.101096G>C (TTN)	ENSP00000465570.1:p.Gly33699Ala
ENST00000615779.4:c.101096G>C (TTN)	ENSP00000483597.1:p.Gly33699Ala
NM_001256850.1:c.101096G>C (TTN)	NP_001243779.1:p.Gly33699Ala
NM_001267550.2:c.106019G>C (TTN) MANE Select	NP_001254479.2:p.Gly35340Ala
NM_003319.4:c.78824G>C (TTN)	NP_003310.4:p.Gly26275Ala
NM_133378.4:c.98315G>C (TTN)	NP_596869.4:p.Gly32772Ala
NM_133432.3:c.79199G>C (TTN)	NP_597676.3:p.Gly26400Ala
NM_133437.4:c.79400G>C (TTN)	NP_597681.4:p.Gly26467Ala
NR_038271.1:n.446+6960C>G (TTN-AS1)
NR_038272.1:n.220-5136C>G (TTN-AS1)
XM_011511729.1:c.105116G>C (TTN)	XP_011510031.1:p.Gly35039Ala
XM_011511730.1:c.79010G>C (TTN)	XP_011510032.1:p.Gly26337Ala
XM_011511731.1:c.78869G>C (TTN)	XP_011510033.1:p.Gly26290Ala
XM_017004819.1:c.104912G>C (TTN)	XP_016860308.1:p.Gly34971Ala
XM_017004820.1:c.100310G>C (TTN)	XP_016860309.1:p.Gly33437Ala
XM_017004821.1:c.100307G>C (TTN)	XP_016860310.1:p.Gly33436Ala
XM_017004822.1:c.97349G>C (TTN)	XP_016860311.1:p.Gly32450Ala
XM_017004823.1:c.78965G>C (TTN)	XP_016860312.1:p.Gly26322Ala
XM_024453094.1:c.100460G>C (TTN)	XP_024308862.1:p.Gly33487Ala
XM_024453095.1:c.100457G>C (TTN)	XP_024308863.1:p.Gly33486Ala
XM_024453096.1:c.99890G>C (TTN)	XP_024308864.1:p.Gly33297Ala
XM_024453097.1:c.97232G>C (TTN)	XP_024308865.1:p.Gly32411Ala
XM_024453098.1:c.97151G>C (TTN)	XP_024308866.1:p.Gly32384Ala
XM_024453099.1:c.78914G>C (TTN)	XP_024308867.1:p.Gly26305Ala
XM_024453100.1:c.68768G>C (TTN)	XP_024308868.1:p.Gly22923Ala