Canonical Allele Identifier: CA1985110

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2922239
• ClinVar RCV Id: RCV003785453
• dbSNP Id: rs776781963
• ExAC: 2:179394802 C / T
• gnomAD v2: 2-179394802-C-T
• gnomAD v3: 2-178530075-C-T
• gnomAD v4: 2-178530075-C-T
• MyVariant Identifiers: chr2:g.179394802C>T (hg19) ; chr2:g.178530075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530075C>T , CM000664.2:g.178530075C>T	GRCh38
NC_000002.11:g.179394802C>T , CM000664.1:g.179394802C>T	GRCh37
NC_000002.10:g.179103048C>T	NCBI36
NG_011618.3:g.305728G>A , LRG_391:g.305728G>A
NG_051363.1:g.12249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98712G>A (TTN)	ENSP00000343764.6:p.Lys32904=
ENST00000342175.11:c.79797G>A (TTN)	ENSP00000340554.6:p.Lys26599=
ENST00000359218.10:c.79596G>A (TTN)	ENSP00000352154.5:p.Lys26532=
ENST00000342175.10:c.79797G>A (TTN)	ENSP00000340554.6:p.Lys26599=
ENST00000342992.10:c.98712G>A (TTN)	ENSP00000343764.6:p.Lys32904=
ENST00000359218.9:c.79596G>A (TTN)	ENSP00000352154.5:p.Lys26532=
ENST00000460472.6:c.79221G>A (TTN)	ENSP00000434586.1:p.Lys26407=
ENST00000589042.5:c.106416G>A (TTN) MANE Select	ENSP00000467141.1:p.Lys35472=
ENST00000591111.5:c.101493G>A (TTN)	ENSP00000465570.1:p.Lys33831=
ENST00000615779.4:c.101493G>A (TTN)	ENSP00000483597.1:p.Lys33831=
NM_001256850.1:c.101493G>A (TTN)	NP_001243779.1:p.Lys33831=
NM_001267550.2:c.106416G>A (TTN) MANE Select	NP_001254479.2:p.Lys35472=
NM_003319.4:c.79221G>A (TTN)	NP_003310.4:p.Lys26407=
NM_133378.4:c.98712G>A (TTN)	NP_596869.4:p.Lys32904=
NM_133432.3:c.79596G>A (TTN)	NP_597676.3:p.Lys26532=
NM_133437.4:c.79797G>A (TTN)	NP_597681.4:p.Lys26599=
NR_038271.1:n.446+6439C>T (TTN-AS1)
NR_038272.1:n.220-5657C>T (TTN-AS1)
XM_011511729.1:c.105513G>A (TTN)	XP_011510031.1:p.Lys35171=
XM_011511730.1:c.79407G>A (TTN)	XP_011510032.1:p.Lys26469=
XM_011511731.1:c.79266G>A (TTN)	XP_011510033.1:p.Lys26422=
XM_017004819.1:c.105309G>A (TTN)	XP_016860308.1:p.Lys35103=
XM_017004820.1:c.100707G>A (TTN)	XP_016860309.1:p.Lys33569=
XM_017004821.1:c.100704G>A (TTN)	XP_016860310.1:p.Lys33568=
XM_017004822.1:c.97746G>A (TTN)	XP_016860311.1:p.Lys32582=
XM_017004823.1:c.79362G>A (TTN)	XP_016860312.1:p.Lys26454=
XM_024453094.1:c.100857G>A (TTN)	XP_024308862.1:p.Lys33619=
XM_024453095.1:c.100854G>A (TTN)	XP_024308863.1:p.Lys33618=
XM_024453096.1:c.100287G>A (TTN)	XP_024308864.1:p.Lys33429=
XM_024453097.1:c.97629G>A (TTN)	XP_024308865.1:p.Lys32543=
XM_024453098.1:c.97548G>A (TTN)	XP_024308866.1:p.Lys32516=
XM_024453099.1:c.79311G>A (TTN)	XP_024308867.1:p.Lys26437=
XM_024453100.1:c.69165G>A (TTN)	XP_024308868.1:p.Lys23055=