Canonical Allele Identifier: CA349407080

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395263T>G (hg19) ; chr2:g.178530536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530536T>G , CM000664.2:g.178530536T>G	GRCh38
NC_000002.11:g.179395263T>G , CM000664.1:g.179395263T>G	GRCh37
NC_000002.10:g.179103509T>G	NCBI36
NG_011618.3:g.305267A>C , LRG_391:g.305267A>C
NG_051363.1:g.12710T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98375A>C (TTN)	ENSP00000343764.6:p.Glu32792Ala
ENST00000342175.11:c.79460A>C (TTN)	ENSP00000340554.6:p.Glu26487Ala
ENST00000359218.10:c.79259A>C (TTN)	ENSP00000352154.5:p.Glu26420Ala
ENST00000342175.10:c.79460A>C (TTN)	ENSP00000340554.6:p.Glu26487Ala
ENST00000342992.10:c.98375A>C (TTN)	ENSP00000343764.6:p.Glu32792Ala
ENST00000359218.9:c.79259A>C (TTN)	ENSP00000352154.5:p.Glu26420Ala
ENST00000460472.6:c.78884A>C (TTN)	ENSP00000434586.1:p.Glu26295Ala
ENST00000589042.5:c.106079A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu35360Ala
ENST00000591111.5:c.101156A>C (TTN)	ENSP00000465570.1:p.Glu33719Ala
ENST00000615779.4:c.101156A>C (TTN)	ENSP00000483597.1:p.Glu33719Ala
NM_001256850.1:c.101156A>C (TTN)	NP_001243779.1:p.Glu33719Ala
NM_001267550.2:c.106079A>C (TTN) MANE Select	NP_001254479.2:p.Glu35360Ala
NM_003319.4:c.78884A>C (TTN)	NP_003310.4:p.Glu26295Ala
NM_133378.4:c.98375A>C (TTN)	NP_596869.4:p.Glu32792Ala
NM_133432.3:c.79259A>C (TTN)	NP_597676.3:p.Glu26420Ala
NM_133437.4:c.79460A>C (TTN)	NP_597681.4:p.Glu26487Ala
NR_038271.1:n.446+6900T>G (TTN-AS1)
NR_038272.1:n.220-5196T>G (TTN-AS1)
XM_011511729.1:c.105176A>C (TTN)	XP_011510031.1:p.Glu35059Ala
XM_011511730.1:c.79070A>C (TTN)	XP_011510032.1:p.Glu26357Ala
XM_011511731.1:c.78929A>C (TTN)	XP_011510033.1:p.Glu26310Ala
XM_017004819.1:c.104972A>C (TTN)	XP_016860308.1:p.Glu34991Ala
XM_017004820.1:c.100370A>C (TTN)	XP_016860309.1:p.Glu33457Ala
XM_017004821.1:c.100367A>C (TTN)	XP_016860310.1:p.Glu33456Ala
XM_017004822.1:c.97409A>C (TTN)	XP_016860311.1:p.Glu32470Ala
XM_017004823.1:c.79025A>C (TTN)	XP_016860312.1:p.Glu26342Ala
XM_024453094.1:c.100520A>C (TTN)	XP_024308862.1:p.Glu33507Ala
XM_024453095.1:c.100517A>C (TTN)	XP_024308863.1:p.Glu33506Ala
XM_024453096.1:c.99950A>C (TTN)	XP_024308864.1:p.Glu33317Ala
XM_024453097.1:c.97292A>C (TTN)	XP_024308865.1:p.Glu32431Ala
XM_024453098.1:c.97211A>C (TTN)	XP_024308866.1:p.Glu32404Ala
XM_024453099.1:c.78974A>C (TTN)	XP_024308867.1:p.Glu26325Ala
XM_024453100.1:c.68828A>C (TTN)	XP_024308868.1:p.Glu22943Ala