Canonical Allele Identifier: CA349484207

Gene: TTN

Linked Data

• ClinVar Variation Id: 467081
• ClinVar RCV Id: RCV000535137
• dbSNP Id: rs1367017667
• gnomAD v2: 2-179523479-T-G
• gnomAD v3: 2-178658752-T-G
• gnomAD v4: 2-178658752-T-G
• MyVariant Identifiers: chr2:g.179523479T>G (hg19) ; chr2:g.178658752T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178658752T>G , CM000664.2:g.178658752T>G	GRCh38
NC_000002.11:g.179523479T>G , CM000664.1:g.179523479T>G	GRCh37
NC_000002.10:g.179231724T>G	NCBI36
NG_011618.3:g.177051A>C , LRG_391:g.177051A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.31741+253A>C	ENSP00000343764.6:n.31741+253A>C
ENST00000342175.11:c.13859-16435A>C	ENSP00000340554.6:n.13859-16435A>C
ENST00000359218.10:c.13658-16435A>C	ENSP00000352154.5:n.13658-16435A>C
ENST00000342175.10:c.13859-16435A>C	ENSP00000340554.6:n.13859-16435A>C
ENST00000342992.10:c.31741+253A>C	ENSP00000343764.6:n.31741+253A>C
ENST00000359218.9:c.13658-16435A>C	ENSP00000352154.5:n.13658-16435A>C
ENST00000414766.5:c.2440+14881A>C	ENSP00000401501.1:n.2440+14881A>C
ENST00000460472.6:c.13283-16435A>C	ENSP00000434586.1:n.13283-16435A>C
ENST00000589042.5:c.37496A>C MANE Select	ENSP00000467141.1:p.Lys12499Thr
ENST00000591111.5:c.34307A>C	ENSP00000465570.1:p.Lys11436Thr
ENST00000615779.4:c.34522+253A>C	ENSP00000483597.1:n.34522+253A>C
NM_001256850.1:c.34522+253A>C	NP_001243779.1:n.34522+253A>C
NM_001267550.2:c.37496A>C MANE Select	NP_001254479.2:p.Lys12499Thr
NM_003319.4:c.13283-16435A>C	NP_003310.4:n.13283-16435A>C
NM_133378.4:c.31741+253A>C	NP_596869.4:n.31741+253A>C
NM_133432.3:c.13658-16435A>C	NP_597676.3:n.13658-16435A>C
NM_133437.4:c.13859-16435A>C	NP_597681.4:n.13859-16435A>C
XM_011511729.1:c.36593A>C	XP_011510031.1:p.Lys12198Thr
XM_011511730.1:c.13469-16435A>C	XP_011510032.1:n.13469-16435A>C
XM_011511731.1:c.13328-16435A>C	XP_011510033.1:n.13328-16435A>C
XM_017004819.1:c.36389A>C	XP_016860308.1:p.Lys12130Thr
XM_017004820.1:c.31787A>C	XP_016860309.1:p.Lys10596Thr
XM_017004821.1:c.31784A>C	XP_016860310.1:p.Lys10595Thr
XM_017004822.1:c.31858+14881A>C	XP_016860311.1:n.31858+14881A>C
XM_017004823.1:c.13424-16435A>C	XP_016860312.1:n.13424-16435A>C
XM_024453094.1:c.33431A>C	XP_024308862.1:p.Lys11144Thr
XM_024453095.1:c.33428A>C	XP_024308863.1:p.Lys11143Thr
XM_024453096.1:c.32861A>C	XP_024308864.1:p.Lys10954Thr
XM_024453097.1:c.31690+14881A>C	XP_024308865.1:n.31690+14881A>C
XM_024453098.1:c.31609+14881A>C	XP_024308866.1:n.31609+14881A>C
XM_024453099.1:c.13424-16435A>C	XP_024308867.1:n.13424-16435A>C
XM_024453100.1:c.245A>C	XP_024308868.1:p.Lys82Thr