Canonical Allele Identifier: CA349405350

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530067-A-C
• MyVariant Identifiers: chr2:g.179394794A>C (hg19) ; chr2:g.178530067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530067A>C , CM000664.2:g.178530067A>C	GRCh38
NC_000002.11:g.179394794A>C , CM000664.1:g.179394794A>C	GRCh37
NC_000002.10:g.179103040A>C	NCBI36
NG_011618.3:g.305736T>G , LRG_391:g.305736T>G
NG_051363.1:g.12241A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98720T>G (TTN)	ENSP00000343764.6:p.Phe32907Cys
ENST00000342175.11:c.79805T>G (TTN)	ENSP00000340554.6:p.Phe26602Cys
ENST00000359218.10:c.79604T>G (TTN)	ENSP00000352154.5:p.Phe26535Cys
ENST00000342175.10:c.79805T>G (TTN)	ENSP00000340554.6:p.Phe26602Cys
ENST00000342992.10:c.98720T>G (TTN)	ENSP00000343764.6:p.Phe32907Cys
ENST00000359218.9:c.79604T>G (TTN)	ENSP00000352154.5:p.Phe26535Cys
ENST00000460472.6:c.79229T>G (TTN)	ENSP00000434586.1:p.Phe26410Cys
ENST00000589042.5:c.106424T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe35475Cys
ENST00000591111.5:c.101501T>G (TTN)	ENSP00000465570.1:p.Phe33834Cys
ENST00000615779.4:c.101501T>G (TTN)	ENSP00000483597.1:p.Phe33834Cys
NM_001256850.1:c.101501T>G (TTN)	NP_001243779.1:p.Phe33834Cys
NM_001267550.2:c.106424T>G (TTN) MANE Select	NP_001254479.2:p.Phe35475Cys
NM_003319.4:c.79229T>G (TTN)	NP_003310.4:p.Phe26410Cys
NM_133378.4:c.98720T>G (TTN)	NP_596869.4:p.Phe32907Cys
NM_133432.3:c.79604T>G (TTN)	NP_597676.3:p.Phe26535Cys
NM_133437.4:c.79805T>G (TTN)	NP_597681.4:p.Phe26602Cys
NR_038271.1:n.446+6431A>C (TTN-AS1)
NR_038272.1:n.220-5665A>C (TTN-AS1)
XM_011511729.1:c.105521T>G (TTN)	XP_011510031.1:p.Phe35174Cys
XM_011511730.1:c.79415T>G (TTN)	XP_011510032.1:p.Phe26472Cys
XM_011511731.1:c.79274T>G (TTN)	XP_011510033.1:p.Phe26425Cys
XM_017004819.1:c.105317T>G (TTN)	XP_016860308.1:p.Phe35106Cys
XM_017004820.1:c.100715T>G (TTN)	XP_016860309.1:p.Phe33572Cys
XM_017004821.1:c.100712T>G (TTN)	XP_016860310.1:p.Phe33571Cys
XM_017004822.1:c.97754T>G (TTN)	XP_016860311.1:p.Phe32585Cys
XM_017004823.1:c.79370T>G (TTN)	XP_016860312.1:p.Phe26457Cys
XM_024453094.1:c.100865T>G (TTN)	XP_024308862.1:p.Phe33622Cys
XM_024453095.1:c.100862T>G (TTN)	XP_024308863.1:p.Phe33621Cys
XM_024453096.1:c.100295T>G (TTN)	XP_024308864.1:p.Phe33432Cys
XM_024453097.1:c.97637T>G (TTN)	XP_024308865.1:p.Phe32546Cys
XM_024453098.1:c.97556T>G (TTN)	XP_024308866.1:p.Phe32519Cys
XM_024453099.1:c.79319T>G (TTN)	XP_024308867.1:p.Phe26440Cys
XM_024453100.1:c.69173T>G (TTN)	XP_024308868.1:p.Phe23058Cys