Canonical Allele Identifier: CA349411706

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2944710
• ClinVar RCV Id: RCV003808412
• MyVariant Identifiers: chr2:g.179396892T>C (hg19) ; chr2:g.178532165T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532165T>C , CM000664.2:g.178532165T>C	GRCh38
NC_000002.11:g.179396892T>C , CM000664.1:g.179396892T>C	GRCh37
NC_000002.10:g.179105138T>C	NCBI36
NG_011618.3:g.303638A>G , LRG_391:g.303638A>G
NG_051363.1:g.14339T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96746A>G (TTN)	ENSP00000343764.6:p.Glu32249Gly
ENST00000342175.11:c.77831A>G (TTN)	ENSP00000340554.6:p.Glu25944Gly
ENST00000359218.10:c.77630A>G (TTN)	ENSP00000352154.5:p.Glu25877Gly
ENST00000342175.10:c.77831A>G (TTN)	ENSP00000340554.6:p.Glu25944Gly
ENST00000342992.10:c.96746A>G (TTN)	ENSP00000343764.6:p.Glu32249Gly
ENST00000359218.9:c.77630A>G (TTN)	ENSP00000352154.5:p.Glu25877Gly
ENST00000460472.6:c.77255A>G (TTN)	ENSP00000434586.1:p.Glu25752Gly
ENST00000589042.5:c.104450A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu34817Gly
ENST00000591111.5:c.99527A>G (TTN)	ENSP00000465570.1:p.Glu33176Gly
ENST00000615779.4:c.99527A>G (TTN)	ENSP00000483597.1:p.Glu33176Gly
NM_001256850.1:c.99527A>G (TTN)	NP_001243779.1:p.Glu33176Gly
NM_001267550.2:c.104450A>G (TTN) MANE Select	NP_001254479.2:p.Glu34817Gly
NM_003319.4:c.77255A>G (TTN)	NP_003310.4:p.Glu25752Gly
NM_133378.4:c.96746A>G (TTN)	NP_596869.4:p.Glu32249Gly
NM_133432.3:c.77630A>G (TTN)	NP_597676.3:p.Glu25877Gly
NM_133437.4:c.77831A>G (TTN)	NP_597681.4:p.Glu25944Gly
NR_038271.1:n.446+8529T>C (TTN-AS1)
NR_038272.1:n.220-3567T>C (TTN-AS1)
XM_011511729.1:c.103547A>G (TTN)	XP_011510031.1:p.Glu34516Gly
XM_011511730.1:c.77441A>G (TTN)	XP_011510032.1:p.Glu25814Gly
XM_011511731.1:c.77300A>G (TTN)	XP_011510033.1:p.Glu25767Gly
XM_017004819.1:c.103343A>G (TTN)	XP_016860308.1:p.Glu34448Gly
XM_017004820.1:c.98741A>G (TTN)	XP_016860309.1:p.Glu32914Gly
XM_017004821.1:c.98738A>G (TTN)	XP_016860310.1:p.Glu32913Gly
XM_017004822.1:c.95780A>G (TTN)	XP_016860311.1:p.Glu31927Gly
XM_017004823.1:c.77396A>G (TTN)	XP_016860312.1:p.Glu25799Gly
XM_024453094.1:c.98891A>G (TTN)	XP_024308862.1:p.Glu32964Gly
XM_024453095.1:c.98888A>G (TTN)	XP_024308863.1:p.Glu32963Gly
XM_024453096.1:c.98321A>G (TTN)	XP_024308864.1:p.Glu32774Gly
XM_024453097.1:c.95663A>G (TTN)	XP_024308865.1:p.Glu31888Gly
XM_024453098.1:c.95582A>G (TTN)	XP_024308866.1:p.Glu31861Gly
XM_024453099.1:c.77345A>G (TTN)	XP_024308867.1:p.Glu25782Gly
XM_024453100.1:c.67199A>G (TTN)	XP_024308868.1:p.Glu22400Gly