Canonical Allele Identifier: CA1995484

Gene: TTN

Linked Data

• ClinVar Variation Id: 1104314
• ClinVar RCV Id: RCV001428346 ; RCV002414016
• dbSNP Id: rs769716636
• ExAC: 2:179486374 T / C
• gnomAD v2: 2-179486374-T-C
• gnomAD v3: 2-178621647-T-C
• gnomAD v4: 2-178621647-T-C
• MyVariant Identifiers: chr2:g.179486374T>C (hg19) ; chr2:g.178621647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621647T>C , CM000664.2:g.178621647T>C	GRCh38
NC_000002.11:g.179486374T>C , CM000664.1:g.179486374T>C	GRCh37
NC_000002.10:g.179194619T>C	NCBI36
NG_011618.3:g.214156A>G , LRG_391:g.214156A>G
NG_051363.1:g.103821T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.37473A>G	ENSP00000343764.6:p.Ala12491=
ENST00000342175.11:c.18558A>G	ENSP00000340554.6:p.Ala6186=
ENST00000359218.10:c.18357A>G	ENSP00000352154.5:p.Ala6119=
ENST00000342175.10:c.18558A>G	ENSP00000340554.6:p.Ala6186=
ENST00000342992.10:c.37473A>G	ENSP00000343764.6:p.Ala12491=
ENST00000359218.9:c.18357A>G	ENSP00000352154.5:p.Ala6119=
ENST00000460472.6:c.17982A>G	ENSP00000434586.1:p.Ala5994=
ENST00000589042.5:c.45177A>G MANE Select	ENSP00000467141.1:p.Ala15059=
ENST00000591111.5:c.40254A>G	ENSP00000465570.1:p.Ala13418=
ENST00000615779.4:c.40254A>G	ENSP00000483597.1:p.Ala13418=
NM_001256850.1:c.40254A>G	NP_001243779.1:p.Ala13418=
NM_001267550.2:c.45177A>G MANE Select	NP_001254479.2:p.Ala15059=
NM_003319.4:c.17982A>G	NP_003310.4:p.Ala5994=
NM_133378.4:c.37473A>G	NP_596869.4:p.Ala12491=
NM_133432.3:c.18357A>G	NP_597676.3:p.Ala6119=
NM_133437.4:c.18558A>G	NP_597681.4:p.Ala6186=
XM_011511729.1:c.44274A>G	XP_011510031.1:p.Ala14758=
XM_011511730.1:c.18168A>G	XP_011510032.1:p.Ala6056=
XM_011511731.1:c.18027A>G	XP_011510033.1:p.Ala6009=
XM_017004819.1:c.44070A>G	XP_016860308.1:p.Ala14690=
XM_017004820.1:c.39468A>G	XP_016860309.1:p.Ala13156=
XM_017004821.1:c.39465A>G	XP_016860310.1:p.Ala13155=
XM_017004822.1:c.36507A>G	XP_016860311.1:p.Ala12169=
XM_017004823.1:c.18123A>G	XP_016860312.1:p.Ala6041=
XM_024453094.1:c.39618A>G	XP_024308862.1:p.Ala13206=
XM_024453095.1:c.39615A>G	XP_024308863.1:p.Ala13205=
XM_024453096.1:c.39048A>G	XP_024308864.1:p.Ala13016=
XM_024453097.1:c.36390A>G	XP_024308865.1:p.Ala12130=
XM_024453098.1:c.36309A>G	XP_024308866.1:p.Ala12103=
XM_024453099.1:c.18072A>G	XP_024308867.1:p.Ala6024=
XM_024453100.1:c.7926A>G	XP_024308868.1:p.Ala2642=