Canonical Allele Identifier: CA349407274

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530624-G-A
• MyVariant Identifiers: chr2:g.179395351G>A (hg19) ; chr2:g.178530624G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530624G>A , CM000664.2:g.178530624G>A	GRCh38
NC_000002.11:g.179395351G>A , CM000664.1:g.179395351G>A	GRCh37
NC_000002.10:g.179103597G>A	NCBI36
NG_011618.3:g.305179C>T , LRG_391:g.305179C>T
NG_051363.1:g.12798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98287C>T (TTN)	ENSP00000343764.6:p.His32763Tyr
ENST00000342175.11:c.79372C>T (TTN)	ENSP00000340554.6:p.His26458Tyr
ENST00000359218.10:c.79171C>T (TTN)	ENSP00000352154.5:p.His26391Tyr
ENST00000342175.10:c.79372C>T (TTN)	ENSP00000340554.6:p.His26458Tyr
ENST00000342992.10:c.98287C>T (TTN)	ENSP00000343764.6:p.His32763Tyr
ENST00000359218.9:c.79171C>T (TTN)	ENSP00000352154.5:p.His26391Tyr
ENST00000460472.6:c.78796C>T (TTN)	ENSP00000434586.1:p.His26266Tyr
ENST00000589042.5:c.105991C>T (TTN) MANE Select	ENSP00000467141.1:p.His35331Tyr
ENST00000591111.5:c.101068C>T (TTN)	ENSP00000465570.1:p.His33690Tyr
ENST00000615779.4:c.101068C>T (TTN)	ENSP00000483597.1:p.His33690Tyr
NM_001256850.1:c.101068C>T (TTN)	NP_001243779.1:p.His33690Tyr
NM_001267550.2:c.105991C>T (TTN) MANE Select	NP_001254479.2:p.His35331Tyr
NM_003319.4:c.78796C>T (TTN)	NP_003310.4:p.His26266Tyr
NM_133378.4:c.98287C>T (TTN)	NP_596869.4:p.His32763Tyr
NM_133432.3:c.79171C>T (TTN)	NP_597676.3:p.His26391Tyr
NM_133437.4:c.79372C>T (TTN)	NP_597681.4:p.His26458Tyr
NR_038271.1:n.446+6988G>A (TTN-AS1)
NR_038272.1:n.220-5108G>A (TTN-AS1)
XM_011511729.1:c.105088C>T (TTN)	XP_011510031.1:p.His35030Tyr
XM_011511730.1:c.78982C>T (TTN)	XP_011510032.1:p.His26328Tyr
XM_011511731.1:c.78841C>T (TTN)	XP_011510033.1:p.His26281Tyr
XM_017004819.1:c.104884C>T (TTN)	XP_016860308.1:p.His34962Tyr
XM_017004820.1:c.100282C>T (TTN)	XP_016860309.1:p.His33428Tyr
XM_017004821.1:c.100279C>T (TTN)	XP_016860310.1:p.His33427Tyr
XM_017004822.1:c.97321C>T (TTN)	XP_016860311.1:p.His32441Tyr
XM_017004823.1:c.78937C>T (TTN)	XP_016860312.1:p.His26313Tyr
XM_024453094.1:c.100432C>T (TTN)	XP_024308862.1:p.His33478Tyr
XM_024453095.1:c.100429C>T (TTN)	XP_024308863.1:p.His33477Tyr
XM_024453096.1:c.99862C>T (TTN)	XP_024308864.1:p.His33288Tyr
XM_024453097.1:c.97204C>T (TTN)	XP_024308865.1:p.His32402Tyr
XM_024453098.1:c.97123C>T (TTN)	XP_024308866.1:p.His32375Tyr
XM_024453099.1:c.78886C>T (TTN)	XP_024308867.1:p.His26296Tyr
XM_024453100.1:c.68740C>T (TTN)	XP_024308868.1:p.His22914Tyr