Canonical Allele Identifier: CA349407201

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2016721
• ClinVar RCV Id: RCV002851719
• MyVariant Identifiers: chr2:g.179395320G>C (hg19) ; chr2:g.178530593G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530593G>C , CM000664.2:g.178530593G>C	GRCh38
NC_000002.11:g.179395320G>C , CM000664.1:g.179395320G>C	GRCh37
NC_000002.10:g.179103566G>C	NCBI36
NG_011618.3:g.305210C>G , LRG_391:g.305210C>G
NG_051363.1:g.12767G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98318C>G (TTN)	ENSP00000343764.6:p.Thr32773Ser
ENST00000342175.11:c.79403C>G (TTN)	ENSP00000340554.6:p.Thr26468Ser
ENST00000359218.10:c.79202C>G (TTN)	ENSP00000352154.5:p.Thr26401Ser
ENST00000342175.10:c.79403C>G (TTN)	ENSP00000340554.6:p.Thr26468Ser
ENST00000342992.10:c.98318C>G (TTN)	ENSP00000343764.6:p.Thr32773Ser
ENST00000359218.9:c.79202C>G (TTN)	ENSP00000352154.5:p.Thr26401Ser
ENST00000460472.6:c.78827C>G (TTN)	ENSP00000434586.1:p.Thr26276Ser
ENST00000589042.5:c.106022C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr35341Ser
ENST00000591111.5:c.101099C>G (TTN)	ENSP00000465570.1:p.Thr33700Ser
ENST00000615779.4:c.101099C>G (TTN)	ENSP00000483597.1:p.Thr33700Ser
NM_001256850.1:c.101099C>G (TTN)	NP_001243779.1:p.Thr33700Ser
NM_001267550.2:c.106022C>G (TTN) MANE Select	NP_001254479.2:p.Thr35341Ser
NM_003319.4:c.78827C>G (TTN)	NP_003310.4:p.Thr26276Ser
NM_133378.4:c.98318C>G (TTN)	NP_596869.4:p.Thr32773Ser
NM_133432.3:c.79202C>G (TTN)	NP_597676.3:p.Thr26401Ser
NM_133437.4:c.79403C>G (TTN)	NP_597681.4:p.Thr26468Ser
NR_038271.1:n.446+6957G>C (TTN-AS1)
NR_038272.1:n.220-5139G>C (TTN-AS1)
XM_011511729.1:c.105119C>G (TTN)	XP_011510031.1:p.Thr35040Ser
XM_011511730.1:c.79013C>G (TTN)	XP_011510032.1:p.Thr26338Ser
XM_011511731.1:c.78872C>G (TTN)	XP_011510033.1:p.Thr26291Ser
XM_017004819.1:c.104915C>G (TTN)	XP_016860308.1:p.Thr34972Ser
XM_017004820.1:c.100313C>G (TTN)	XP_016860309.1:p.Thr33438Ser
XM_017004821.1:c.100310C>G (TTN)	XP_016860310.1:p.Thr33437Ser
XM_017004822.1:c.97352C>G (TTN)	XP_016860311.1:p.Thr32451Ser
XM_017004823.1:c.78968C>G (TTN)	XP_016860312.1:p.Thr26323Ser
XM_024453094.1:c.100463C>G (TTN)	XP_024308862.1:p.Thr33488Ser
XM_024453095.1:c.100460C>G (TTN)	XP_024308863.1:p.Thr33487Ser
XM_024453096.1:c.99893C>G (TTN)	XP_024308864.1:p.Thr33298Ser
XM_024453097.1:c.97235C>G (TTN)	XP_024308865.1:p.Thr32412Ser
XM_024453098.1:c.97154C>G (TTN)	XP_024308866.1:p.Thr32385Ser
XM_024453099.1:c.78917C>G (TTN)	XP_024308867.1:p.Thr26306Ser
XM_024453100.1:c.68771C>G (TTN)	XP_024308868.1:p.Thr22924Ser