Canonical Allele Identifier: CA349446437

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543350-T-C
• MyVariant Identifiers: chr2:g.179408077T>C (hg19) ; chr2:g.178543350T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543350T>C , CM000664.2:g.178543350T>C	GRCh38
NC_000002.11:g.179408077T>C , CM000664.1:g.179408077T>C	GRCh37
NC_000002.10:g.179116323T>C	NCBI36
NG_011618.3:g.292453A>G , LRG_391:g.292453A>G
NG_051363.1:g.25524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88919A>G (TTN)	ENSP00000343764.6:p.Lys29640Arg
ENST00000342175.11:c.70004A>G (TTN)	ENSP00000340554.6:p.Lys23335Arg
ENST00000359218.10:c.69803A>G (TTN)	ENSP00000352154.5:p.Lys23268Arg
ENST00000342175.10:c.70004A>G (TTN)	ENSP00000340554.6:p.Lys23335Arg
ENST00000342992.10:c.88919A>G (TTN)	ENSP00000343764.6:p.Lys29640Arg
ENST00000359218.9:c.69803A>G (TTN)	ENSP00000352154.5:p.Lys23268Arg
ENST00000460472.6:c.69428A>G (TTN)	ENSP00000434586.1:p.Lys23143Arg
ENST00000589042.5:c.96623A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys32208Arg
ENST00000591111.5:c.91700A>G (TTN)	ENSP00000465570.1:p.Lys30567Arg
ENST00000615779.4:c.91700A>G (TTN)	ENSP00000483597.1:p.Lys30567Arg
NM_001256850.1:c.91700A>G (TTN)	NP_001243779.1:p.Lys30567Arg
NM_001267550.2:c.96623A>G (TTN) MANE Select	NP_001254479.2:p.Lys32208Arg
NM_003319.4:c.69428A>G (TTN)	NP_003310.4:p.Lys23143Arg
NM_133378.4:c.88919A>G (TTN)	NP_596869.4:p.Lys29640Arg
NM_133432.3:c.69803A>G (TTN)	NP_597676.3:p.Lys23268Arg
NM_133437.4:c.70004A>G (TTN)	NP_597681.4:p.Lys23335Arg
NR_038271.1:n.446+19714T>C (TTN-AS1)
NR_038272.1:n.2043+989T>C (TTN-AS1)
XM_011511729.1:c.95720A>G (TTN)	XP_011510031.1:p.Lys31907Arg
XM_011511730.1:c.69614A>G (TTN)	XP_011510032.1:p.Lys23205Arg
XM_011511731.1:c.69473A>G (TTN)	XP_011510033.1:p.Lys23158Arg
XM_017004819.1:c.95516A>G (TTN)	XP_016860308.1:p.Lys31839Arg
XM_017004820.1:c.90914A>G (TTN)	XP_016860309.1:p.Lys30305Arg
XM_017004821.1:c.90911A>G (TTN)	XP_016860310.1:p.Lys30304Arg
XM_017004822.1:c.87953A>G (TTN)	XP_016860311.1:p.Lys29318Arg
XM_017004823.1:c.69569A>G (TTN)	XP_016860312.1:p.Lys23190Arg
XM_024453094.1:c.91064A>G (TTN)	XP_024308862.1:p.Lys30355Arg
XM_024453095.1:c.91061A>G (TTN)	XP_024308863.1:p.Lys30354Arg
XM_024453096.1:c.90494A>G (TTN)	XP_024308864.1:p.Lys30165Arg
XM_024453097.1:c.87836A>G (TTN)	XP_024308865.1:p.Lys29279Arg
XM_024453098.1:c.87755A>G (TTN)	XP_024308866.1:p.Lys29252Arg
XM_024453099.1:c.69518A>G (TTN)	XP_024308867.1:p.Lys23173Arg
XM_024453100.1:c.59372A>G (TTN)	XP_024308868.1:p.Lys19791Arg