Canonical Allele Identifier: CA349400728

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179392359A>T (hg19) ; chr2:g.178527632A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527632A>T , CM000664.2:g.178527632A>T	GRCh38
NC_000002.11:g.179392359A>T , CM000664.1:g.179392359A>T	GRCh37
NC_000002.10:g.179100605A>T	NCBI36
NG_011618.3:g.308171T>A , LRG_391:g.308171T>A
NG_051363.1:g.9806A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.99790T>A (TTN)	ENSP00000343764.6:p.Phe33264Ile
ENST00000342175.11:c.80875T>A (TTN)	ENSP00000340554.6:p.Phe26959Ile
ENST00000359218.10:c.80674T>A (TTN)	ENSP00000352154.5:p.Phe26892Ile
ENST00000342175.10:c.80875T>A (TTN)	ENSP00000340554.6:p.Phe26959Ile
ENST00000342992.10:c.99790T>A (TTN)	ENSP00000343764.6:p.Phe33264Ile
ENST00000359218.9:c.80674T>A (TTN)	ENSP00000352154.5:p.Phe26892Ile
ENST00000460472.6:c.80299T>A (TTN)	ENSP00000434586.1:p.Phe26767Ile
ENST00000589042.5:c.107494T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe35832Ile
ENST00000591111.5:c.102571T>A (TTN)	ENSP00000465570.1:p.Phe34191Ile
ENST00000615779.4:c.102571T>A (TTN)	ENSP00000483597.1:p.Phe34191Ile
NM_001256850.1:c.102571T>A (TTN)	NP_001243779.1:p.Phe34191Ile
NM_001267550.2:c.107494T>A (TTN) MANE Select	NP_001254479.2:p.Phe35832Ile
NM_003319.4:c.80299T>A (TTN)	NP_003310.4:p.Phe26767Ile
NM_133378.4:c.99790T>A (TTN)	NP_596869.4:p.Phe33264Ile
NM_133432.3:c.80674T>A (TTN)	NP_597676.3:p.Phe26892Ile
NM_133437.4:c.80875T>A (TTN)	NP_597681.4:p.Phe26959Ile
NR_038271.1:n.446+3996A>T (TTN-AS1)
NR_038272.1:n.219+3996A>T (TTN-AS1)
XM_011511729.1:c.106591T>A (TTN)	XP_011510031.1:p.Phe35531Ile
XM_011511730.1:c.80485T>A (TTN)	XP_011510032.1:p.Phe26829Ile
XM_011511731.1:c.80344T>A (TTN)	XP_011510033.1:p.Phe26782Ile
XM_017004819.1:c.106387T>A (TTN)	XP_016860308.1:p.Phe35463Ile
XM_017004820.1:c.101785T>A (TTN)	XP_016860309.1:p.Phe33929Ile
XM_017004821.1:c.101782T>A (TTN)	XP_016860310.1:p.Phe33928Ile
XM_017004822.1:c.98824T>A (TTN)	XP_016860311.1:p.Phe32942Ile
XM_017004823.1:c.80440T>A (TTN)	XP_016860312.1:p.Phe26814Ile
XM_024453094.1:c.101935T>A (TTN)	XP_024308862.1:p.Phe33979Ile
XM_024453095.1:c.101932T>A (TTN)	XP_024308863.1:p.Phe33978Ile
XM_024453096.1:c.101365T>A (TTN)	XP_024308864.1:p.Phe33789Ile
XM_024453097.1:c.98707T>A (TTN)	XP_024308865.1:p.Phe32903Ile
XM_024453098.1:c.98626T>A (TTN)	XP_024308866.1:p.Phe32876Ile
XM_024453099.1:c.80389T>A (TTN)	XP_024308867.1:p.Phe26797Ile
XM_024453100.1:c.70243T>A (TTN)	XP_024308868.1:p.Phe23415Ile