Canonical Allele Identifier: CA310430

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202834
• ClinVar RCV Id: RCV000184786 ; RCV001508108 ; RCV002503734 ; RCV002327004
• dbSNP Id: rs771783837
• ExAC: 2:179439235 G / T
• gnomAD v2: 2-179439235-G-T
• gnomAD v3: 2-178574508-G-T
• gnomAD v4: 2-178574508-G-T
• COSMIC: COSM476406 ; COSM476407 ; COSM476408 ; COSM1136450
• MyVariant Identifiers: chr2:g.179439235G>T (hg19) ; chr2:g.178574508G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574508G>T , CM000664.2:g.178574508G>T	GRCh38
NC_000002.11:g.179439235G>T , CM000664.1:g.179439235G>T	GRCh37
NC_000002.10:g.179147481G>T	NCBI36
NG_011618.3:g.261295C>A , LRG_391:g.261295C>A
NG_051363.1:g.56682G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.63920C>A (TTN)	ENSP00000343764.6:p.Thr21307Asn
ENST00000342175.11:c.45005C>A (TTN)	ENSP00000340554.6:p.Thr15002Asn
ENST00000359218.10:c.44804C>A (TTN)	ENSP00000352154.5:p.Thr14935Asn
ENST00000342175.10:c.45005C>A (TTN)	ENSP00000340554.6:p.Thr15002Asn
ENST00000342992.10:c.63920C>A (TTN)	ENSP00000343764.6:p.Thr21307Asn
ENST00000359218.9:c.44804C>A (TTN)	ENSP00000352154.5:p.Thr14935Asn
ENST00000460472.6:c.44429C>A (TTN)	ENSP00000434586.1:p.Thr14810Asn
ENST00000589042.5:c.71624C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr23875Asn
ENST00000591111.5:c.66701C>A (TTN)	ENSP00000465570.1:p.Thr22234Asn
ENST00000615779.4:c.66701C>A (TTN)	ENSP00000483597.1:p.Thr22234Asn
NM_001256850.1:c.66701C>A (TTN)	NP_001243779.1:p.Thr22234Asn
NM_001267550.2:c.71624C>A (TTN) MANE Select	NP_001254479.2:p.Thr23875Asn
NM_003319.4:c.44429C>A (TTN)	NP_003310.4:p.Thr14810Asn
NM_133378.4:c.63920C>A (TTN)	NP_596869.4:p.Thr21307Asn
NM_133432.3:c.44804C>A (TTN)	NP_597676.3:p.Thr14935Asn
NM_133437.4:c.45005C>A (TTN)	NP_597681.4:p.Thr15002Asn
NR_038271.1:n.596+3059G>T (TTN-AS1)
NR_038272.1:n.2044-8064G>T (TTN-AS1)
XM_011511729.1:c.70721C>A (TTN)	XP_011510031.1:p.Thr23574Asn
XM_011511730.1:c.44615C>A (TTN)	XP_011510032.1:p.Thr14872Asn
XM_011511731.1:c.44474C>A (TTN)	XP_011510033.1:p.Thr14825Asn
XM_017004819.1:c.70517C>A (TTN)	XP_016860308.1:p.Thr23506Asn
XM_017004820.1:c.65915C>A (TTN)	XP_016860309.1:p.Thr21972Asn
XM_017004821.1:c.65912C>A (TTN)	XP_016860310.1:p.Thr21971Asn
XM_017004822.1:c.62954C>A (TTN)	XP_016860311.1:p.Thr20985Asn
XM_017004823.1:c.44570C>A (TTN)	XP_016860312.1:p.Thr14857Asn
XM_024453094.1:c.66065C>A (TTN)	XP_024308862.1:p.Thr22022Asn
XM_024453095.1:c.66062C>A (TTN)	XP_024308863.1:p.Thr22021Asn
XM_024453096.1:c.65495C>A (TTN)	XP_024308864.1:p.Thr21832Asn
XM_024453097.1:c.62837C>A (TTN)	XP_024308865.1:p.Thr20946Asn
XM_024453098.1:c.62756C>A (TTN)	XP_024308866.1:p.Thr20919Asn
XM_024453099.1:c.44519C>A (TTN)	XP_024308867.1:p.Thr14840Asn
XM_024453100.1:c.34373C>A (TTN)	XP_024308868.1:p.Thr11458Asn