Canonical Allele Identifier: CA349456739

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544372-T-A
• MyVariant Identifiers: chr2:g.179409099T>A (hg19) ; chr2:g.178544372T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544372T>A , CM000664.2:g.178544372T>A	GRCh38
NC_000002.11:g.179409099T>A , CM000664.1:g.179409099T>A	GRCh37
NC_000002.10:g.179117345T>A	NCBI36
NG_011618.3:g.291431A>T , LRG_391:g.291431A>T
NG_051363.1:g.26546T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88153A>T (TTN)	ENSP00000343764.6:p.Thr29385Ser
ENST00000342175.11:c.69238A>T (TTN)	ENSP00000340554.6:p.Thr23080Ser
ENST00000359218.10:c.69037A>T (TTN)	ENSP00000352154.5:p.Thr23013Ser
ENST00000342175.10:c.69238A>T (TTN)	ENSP00000340554.6:p.Thr23080Ser
ENST00000342992.10:c.88153A>T (TTN)	ENSP00000343764.6:p.Thr29385Ser
ENST00000359218.9:c.69037A>T (TTN)	ENSP00000352154.5:p.Thr23013Ser
ENST00000460472.6:c.68662A>T (TTN)	ENSP00000434586.1:p.Thr22888Ser
ENST00000589042.5:c.95857A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr31953Ser
ENST00000591111.5:c.90934A>T (TTN)	ENSP00000465570.1:p.Thr30312Ser
ENST00000615779.4:c.90934A>T (TTN)	ENSP00000483597.1:p.Thr30312Ser
NM_001256850.1:c.90934A>T (TTN)	NP_001243779.1:p.Thr30312Ser
NM_001267550.2:c.95857A>T (TTN) MANE Select	NP_001254479.2:p.Thr31953Ser
NM_003319.4:c.68662A>T (TTN)	NP_003310.4:p.Thr22888Ser
NM_133378.4:c.88153A>T (TTN)	NP_596869.4:p.Thr29385Ser
NM_133432.3:c.69037A>T (TTN)	NP_597676.3:p.Thr23013Ser
NM_133437.4:c.69238A>T (TTN)	NP_597681.4:p.Thr23080Ser
NR_038271.1:n.446+20736T>A (TTN-AS1)
NR_038272.1:n.2043+2011T>A (TTN-AS1)
XM_011511729.1:c.94954A>T (TTN)	XP_011510031.1:p.Thr31652Ser
XM_011511730.1:c.68848A>T (TTN)	XP_011510032.1:p.Thr22950Ser
XM_011511731.1:c.68707A>T (TTN)	XP_011510033.1:p.Thr22903Ser
XM_017004819.1:c.94750A>T (TTN)	XP_016860308.1:p.Thr31584Ser
XM_017004820.1:c.90148A>T (TTN)	XP_016860309.1:p.Thr30050Ser
XM_017004821.1:c.90145A>T (TTN)	XP_016860310.1:p.Thr30049Ser
XM_017004822.1:c.87187A>T (TTN)	XP_016860311.1:p.Thr29063Ser
XM_017004823.1:c.68803A>T (TTN)	XP_016860312.1:p.Thr22935Ser
XM_024453094.1:c.90298A>T (TTN)	XP_024308862.1:p.Thr30100Ser
XM_024453095.1:c.90295A>T (TTN)	XP_024308863.1:p.Thr30099Ser
XM_024453096.1:c.89728A>T (TTN)	XP_024308864.1:p.Thr29910Ser
XM_024453097.1:c.87070A>T (TTN)	XP_024308865.1:p.Thr29024Ser
XM_024453098.1:c.86989A>T (TTN)	XP_024308866.1:p.Thr28997Ser
XM_024453099.1:c.68752A>T (TTN)	XP_024308867.1:p.Thr22918Ser
XM_024453100.1:c.58606A>T (TTN)	XP_024308868.1:p.Thr19536Ser