Canonical Allele Identifier: CA349411308

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5904175 ; COSM5904176 ; COSM5904177 ; COSM5904178
• MyVariant Identifiers: chr2:g.179396734C>T (hg19) ; chr2:g.178532007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532007C>T , CM000664.2:g.178532007C>T	GRCh38
NC_000002.11:g.179396734C>T , CM000664.1:g.179396734C>T	GRCh37
NC_000002.10:g.179104980C>T	NCBI36
NG_011618.3:g.303796G>A , LRG_391:g.303796G>A
NG_051363.1:g.14181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96904G>A (TTN)	ENSP00000343764.6:p.Asp32302Asn
ENST00000342175.11:c.77989G>A (TTN)	ENSP00000340554.6:p.Asp25997Asn
ENST00000359218.10:c.77788G>A (TTN)	ENSP00000352154.5:p.Asp25930Asn
ENST00000342175.10:c.77989G>A (TTN)	ENSP00000340554.6:p.Asp25997Asn
ENST00000342992.10:c.96904G>A (TTN)	ENSP00000343764.6:p.Asp32302Asn
ENST00000359218.9:c.77788G>A (TTN)	ENSP00000352154.5:p.Asp25930Asn
ENST00000460472.6:c.77413G>A (TTN)	ENSP00000434586.1:p.Asp25805Asn
ENST00000589042.5:c.104608G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp34870Asn
ENST00000591111.5:c.99685G>A (TTN)	ENSP00000465570.1:p.Asp33229Asn
ENST00000615779.4:c.99685G>A (TTN)	ENSP00000483597.1:p.Asp33229Asn
NM_001256850.1:c.99685G>A (TTN)	NP_001243779.1:p.Asp33229Asn
NM_001267550.2:c.104608G>A (TTN) MANE Select	NP_001254479.2:p.Asp34870Asn
NM_003319.4:c.77413G>A (TTN)	NP_003310.4:p.Asp25805Asn
NM_133378.4:c.96904G>A (TTN)	NP_596869.4:p.Asp32302Asn
NM_133432.3:c.77788G>A (TTN)	NP_597676.3:p.Asp25930Asn
NM_133437.4:c.77989G>A (TTN)	NP_597681.4:p.Asp25997Asn
NR_038271.1:n.446+8371C>T (TTN-AS1)
NR_038272.1:n.220-3725C>T (TTN-AS1)
XM_011511729.1:c.103705G>A (TTN)	XP_011510031.1:p.Asp34569Asn
XM_011511730.1:c.77599G>A (TTN)	XP_011510032.1:p.Asp25867Asn
XM_011511731.1:c.77458G>A (TTN)	XP_011510033.1:p.Asp25820Asn
XM_017004819.1:c.103501G>A (TTN)	XP_016860308.1:p.Asp34501Asn
XM_017004820.1:c.98899G>A (TTN)	XP_016860309.1:p.Asp32967Asn
XM_017004821.1:c.98896G>A (TTN)	XP_016860310.1:p.Asp32966Asn
XM_017004822.1:c.95938G>A (TTN)	XP_016860311.1:p.Asp31980Asn
XM_017004823.1:c.77554G>A (TTN)	XP_016860312.1:p.Asp25852Asn
XM_024453094.1:c.99049G>A (TTN)	XP_024308862.1:p.Asp33017Asn
XM_024453095.1:c.99046G>A (TTN)	XP_024308863.1:p.Asp33016Asn
XM_024453096.1:c.98479G>A (TTN)	XP_024308864.1:p.Asp32827Asn
XM_024453097.1:c.95821G>A (TTN)	XP_024308865.1:p.Asp31941Asn
XM_024453098.1:c.95740G>A (TTN)	XP_024308866.1:p.Asp31914Asn
XM_024453099.1:c.77503G>A (TTN)	XP_024308867.1:p.Asp25835Asn
XM_024453100.1:c.67357G>A (TTN)	XP_024308868.1:p.Asp22453Asn