Canonical Allele Identifier: CA430235733

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154133957
• gnomAD v4: 2-178532029-T-A
• MyVariant Identifiers: chr2:g.179396756T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532029T>A , CM000664.2:g.178532029T>A	GRCh38
NC_000002.11:g.179396756T>A , CM000664.1:g.179396756T>A	GRCh37
NC_000002.10:g.179105002T>A	NCBI36
NG_011618.3:g.303774A>T , LRG_391:g.303774A>T
NG_051363.1:g.14203T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96882A>T (TTN)	ENSP00000343764.6:p.Pro32294=
ENST00000342175.11:c.77967A>T (TTN)	ENSP00000340554.6:p.Pro25989=
ENST00000359218.10:c.77766A>T (TTN)	ENSP00000352154.5:p.Pro25922=
ENST00000342175.10:c.77967A>T (TTN)	ENSP00000340554.6:p.Pro25989=
ENST00000342992.10:c.96882A>T (TTN)	ENSP00000343764.6:p.Pro32294=
ENST00000359218.9:c.77766A>T (TTN)	ENSP00000352154.5:p.Pro25922=
ENST00000460472.6:c.77391A>T (TTN)	ENSP00000434586.1:p.Pro25797=
ENST00000589042.5:c.104586A>T (TTN) MANE Select	ENSP00000467141.1:p.Pro34862=
ENST00000591111.5:c.99663A>T (TTN)	ENSP00000465570.1:p.Pro33221=
ENST00000615779.4:c.99663A>T (TTN)	ENSP00000483597.1:p.Pro33221=
NM_001256850.1:c.99663A>T (TTN)	NP_001243779.1:p.Pro33221=
NM_001267550.2:c.104586A>T (TTN) MANE Select	NP_001254479.2:p.Pro34862=
NM_003319.4:c.77391A>T (TTN)	NP_003310.4:p.Pro25797=
NM_133378.4:c.96882A>T (TTN)	NP_596869.4:p.Pro32294=
NM_133432.3:c.77766A>T (TTN)	NP_597676.3:p.Pro25922=
NM_133437.4:c.77967A>T (TTN)	NP_597681.4:p.Pro25989=
NR_038271.1:n.446+8393T>A (TTN-AS1)
NR_038272.1:n.220-3703T>A (TTN-AS1)
XM_011511729.1:c.103683A>T (TTN)	XP_011510031.1:p.Pro34561=
XM_011511730.1:c.77577A>T (TTN)	XP_011510032.1:p.Pro25859=
XM_011511731.1:c.77436A>T (TTN)	XP_011510033.1:p.Pro25812=
XM_017004819.1:c.103479A>T (TTN)	XP_016860308.1:p.Pro34493=
XM_017004820.1:c.98877A>T (TTN)	XP_016860309.1:p.Pro32959=
XM_017004821.1:c.98874A>T (TTN)	XP_016860310.1:p.Pro32958=
XM_017004822.1:c.95916A>T (TTN)	XP_016860311.1:p.Pro31972=
XM_017004823.1:c.77532A>T (TTN)	XP_016860312.1:p.Pro25844=
XM_024453094.1:c.99027A>T (TTN)	XP_024308862.1:p.Pro33009=
XM_024453095.1:c.99024A>T (TTN)	XP_024308863.1:p.Pro33008=
XM_024453096.1:c.98457A>T (TTN)	XP_024308864.1:p.Pro32819=
XM_024453097.1:c.95799A>T (TTN)	XP_024308865.1:p.Pro31933=
XM_024453098.1:c.95718A>T (TTN)	XP_024308866.1:p.Pro31906=
XM_024453099.1:c.77481A>T (TTN)	XP_024308867.1:p.Pro25827=
XM_024453100.1:c.67335A>T (TTN)	XP_024308868.1:p.Pro22445=