Canonical Allele Identifier: CA349411945

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178532271-G-A
• MyVariant Identifiers: chr2:g.179396998G>A (hg19) ; chr2:g.178532271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532271G>A , CM000664.2:g.178532271G>A	GRCh38
NC_000002.11:g.179396998G>A , CM000664.1:g.179396998G>A	GRCh37
NC_000002.10:g.179105244G>A	NCBI36
NG_011618.3:g.303532C>T , LRG_391:g.303532C>T
NG_051363.1:g.14445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96640C>T (TTN)	ENSP00000343764.6:p.His32214Tyr
ENST00000342175.11:c.77725C>T (TTN)	ENSP00000340554.6:p.His25909Tyr
ENST00000359218.10:c.77524C>T (TTN)	ENSP00000352154.5:p.His25842Tyr
ENST00000342175.10:c.77725C>T (TTN)	ENSP00000340554.6:p.His25909Tyr
ENST00000342992.10:c.96640C>T (TTN)	ENSP00000343764.6:p.His32214Tyr
ENST00000359218.9:c.77524C>T (TTN)	ENSP00000352154.5:p.His25842Tyr
ENST00000460472.6:c.77149C>T (TTN)	ENSP00000434586.1:p.His25717Tyr
ENST00000589042.5:c.104344C>T (TTN) MANE Select	ENSP00000467141.1:p.His34782Tyr
ENST00000591111.5:c.99421C>T (TTN)	ENSP00000465570.1:p.His33141Tyr
ENST00000615779.4:c.99421C>T (TTN)	ENSP00000483597.1:p.His33141Tyr
NM_001256850.1:c.99421C>T (TTN)	NP_001243779.1:p.His33141Tyr
NM_001267550.2:c.104344C>T (TTN) MANE Select	NP_001254479.2:p.His34782Tyr
NM_003319.4:c.77149C>T (TTN)	NP_003310.4:p.His25717Tyr
NM_133378.4:c.96640C>T (TTN)	NP_596869.4:p.His32214Tyr
NM_133432.3:c.77524C>T (TTN)	NP_597676.3:p.His25842Tyr
NM_133437.4:c.77725C>T (TTN)	NP_597681.4:p.His25909Tyr
NR_038271.1:n.446+8635G>A (TTN-AS1)
NR_038272.1:n.220-3461G>A (TTN-AS1)
XM_011511729.1:c.103441C>T (TTN)	XP_011510031.1:p.His34481Tyr
XM_011511730.1:c.77335C>T (TTN)	XP_011510032.1:p.His25779Tyr
XM_011511731.1:c.77194C>T (TTN)	XP_011510033.1:p.His25732Tyr
XM_017004819.1:c.103237C>T (TTN)	XP_016860308.1:p.His34413Tyr
XM_017004820.1:c.98635C>T (TTN)	XP_016860309.1:p.His32879Tyr
XM_017004821.1:c.98632C>T (TTN)	XP_016860310.1:p.His32878Tyr
XM_017004822.1:c.95674C>T (TTN)	XP_016860311.1:p.His31892Tyr
XM_017004823.1:c.77290C>T (TTN)	XP_016860312.1:p.His25764Tyr
XM_024453094.1:c.98785C>T (TTN)	XP_024308862.1:p.His32929Tyr
XM_024453095.1:c.98782C>T (TTN)	XP_024308863.1:p.His32928Tyr
XM_024453096.1:c.98215C>T (TTN)	XP_024308864.1:p.His32739Tyr
XM_024453097.1:c.95557C>T (TTN)	XP_024308865.1:p.His31853Tyr
XM_024453098.1:c.95476C>T (TTN)	XP_024308866.1:p.His31826Tyr
XM_024453099.1:c.77239C>T (TTN)	XP_024308867.1:p.His25747Tyr
XM_024453100.1:c.67093C>T (TTN)	XP_024308868.1:p.His22365Tyr