Canonical Allele Identifier: CA430235028

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530262-G-A
• MyVariant Identifiers: chr2:g.179394989G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530262G>A , CM000664.2:g.178530262G>A	GRCh38
NC_000002.11:g.179394989G>A , CM000664.1:g.179394989G>A	GRCh37
NC_000002.10:g.179103235G>A	NCBI36
NG_011618.3:g.305541C>T , LRG_391:g.305541C>T
NG_051363.1:g.12436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98649C>T (TTN)	ENSP00000343764.6:p.Ala32883=
ENST00000342175.11:c.79734C>T (TTN)	ENSP00000340554.6:p.Ala26578=
ENST00000359218.10:c.79533C>T (TTN)	ENSP00000352154.5:p.Ala26511=
ENST00000342175.10:c.79734C>T (TTN)	ENSP00000340554.6:p.Ala26578=
ENST00000342992.10:c.98649C>T (TTN)	ENSP00000343764.6:p.Ala32883=
ENST00000359218.9:c.79533C>T (TTN)	ENSP00000352154.5:p.Ala26511=
ENST00000460472.6:c.79158C>T (TTN)	ENSP00000434586.1:p.Ala26386=
ENST00000589042.5:c.106353C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala35451=
ENST00000591111.5:c.101430C>T (TTN)	ENSP00000465570.1:p.Ala33810=
ENST00000615779.4:c.101430C>T (TTN)	ENSP00000483597.1:p.Ala33810=
NM_001256850.1:c.101430C>T (TTN)	NP_001243779.1:p.Ala33810=
NM_001267550.2:c.106353C>T (TTN) MANE Select	NP_001254479.2:p.Ala35451=
NM_003319.4:c.79158C>T (TTN)	NP_003310.4:p.Ala26386=
NM_133378.4:c.98649C>T (TTN)	NP_596869.4:p.Ala32883=
NM_133432.3:c.79533C>T (TTN)	NP_597676.3:p.Ala26511=
NM_133437.4:c.79734C>T (TTN)	NP_597681.4:p.Ala26578=
NR_038271.1:n.446+6626G>A (TTN-AS1)
NR_038272.1:n.220-5470G>A (TTN-AS1)
XM_011511729.1:c.105450C>T (TTN)	XP_011510031.1:p.Ala35150=
XM_011511730.1:c.79344C>T (TTN)	XP_011510032.1:p.Ala26448=
XM_011511731.1:c.79203C>T (TTN)	XP_011510033.1:p.Ala26401=
XM_017004819.1:c.105246C>T (TTN)	XP_016860308.1:p.Ala35082=
XM_017004820.1:c.100644C>T (TTN)	XP_016860309.1:p.Ala33548=
XM_017004821.1:c.100641C>T (TTN)	XP_016860310.1:p.Ala33547=
XM_017004822.1:c.97683C>T (TTN)	XP_016860311.1:p.Ala32561=
XM_017004823.1:c.79299C>T (TTN)	XP_016860312.1:p.Ala26433=
XM_024453094.1:c.100794C>T (TTN)	XP_024308862.1:p.Ala33598=
XM_024453095.1:c.100791C>T (TTN)	XP_024308863.1:p.Ala33597=
XM_024453096.1:c.100224C>T (TTN)	XP_024308864.1:p.Ala33408=
XM_024453097.1:c.97566C>T (TTN)	XP_024308865.1:p.Ala32522=
XM_024453098.1:c.97485C>T (TTN)	XP_024308866.1:p.Ala32495=
XM_024453099.1:c.79248C>T (TTN)	XP_024308867.1:p.Ala26416=
XM_024453100.1:c.69102C>T (TTN)	XP_024308868.1:p.Ala23034=