Canonical Allele Identifier: CA349594294

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431158G>T (hg19) ; chr2:g.178566431G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566431G>T , CM000664.2:g.178566431G>T	GRCh38
NC_000002.11:g.179431158G>T , CM000664.1:g.179431158G>T	GRCh37
NC_000002.10:g.179139404G>T	NCBI36
NG_011618.3:g.269372C>A , LRG_391:g.269372C>A
NG_051363.1:g.48605G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71997C>A (TTN)	ENSP00000343764.6:p.Asn23999Lys
ENST00000342175.11:c.53082C>A (TTN)	ENSP00000340554.6:p.Asn17694Lys
ENST00000359218.10:c.52881C>A (TTN)	ENSP00000352154.5:p.Asn17627Lys
ENST00000342175.10:c.53082C>A (TTN)	ENSP00000340554.6:p.Asn17694Lys
ENST00000342992.10:c.71997C>A (TTN)	ENSP00000343764.6:p.Asn23999Lys
ENST00000359218.9:c.52881C>A (TTN)	ENSP00000352154.5:p.Asn17627Lys
ENST00000460472.6:c.52506C>A (TTN)	ENSP00000434586.1:p.Asn17502Lys
ENST00000589042.5:c.79701C>A (TTN) MANE Select	ENSP00000467141.1:p.Asn26567Lys
ENST00000591111.5:c.74778C>A (TTN)	ENSP00000465570.1:p.Asn24926Lys
ENST00000615779.4:c.74778C>A (TTN)	ENSP00000483597.1:p.Asn24926Lys
NM_001256850.1:c.74778C>A (TTN)	NP_001243779.1:p.Asn24926Lys
NM_001267550.2:c.79701C>A (TTN) MANE Select	NP_001254479.2:p.Asn26567Lys
NM_003319.4:c.52506C>A (TTN)	NP_003310.4:p.Asn17502Lys
NM_133378.4:c.71997C>A (TTN)	NP_596869.4:p.Asn23999Lys
NM_133432.3:c.52881C>A (TTN)	NP_597676.3:p.Asn17627Lys
NM_133437.4:c.53082C>A (TTN)	NP_597681.4:p.Asn17694Lys
NR_038271.1:n.447-4869G>T (TTN-AS1)
NR_038272.1:n.2044-16141G>T (TTN-AS1)
XM_011511729.1:c.78798C>A (TTN)	XP_011510031.1:p.Asn26266Lys
XM_011511730.1:c.52692C>A (TTN)	XP_011510032.1:p.Asn17564Lys
XM_011511731.1:c.52551C>A (TTN)	XP_011510033.1:p.Asn17517Lys
XM_017004819.1:c.78594C>A (TTN)	XP_016860308.1:p.Asn26198Lys
XM_017004820.1:c.73992C>A (TTN)	XP_016860309.1:p.Asn24664Lys
XM_017004821.1:c.73989C>A (TTN)	XP_016860310.1:p.Asn24663Lys
XM_017004822.1:c.71031C>A (TTN)	XP_016860311.1:p.Asn23677Lys
XM_017004823.1:c.52647C>A (TTN)	XP_016860312.1:p.Asn17549Lys
XM_024453094.1:c.74142C>A (TTN)	XP_024308862.1:p.Asn24714Lys
XM_024453095.1:c.74139C>A (TTN)	XP_024308863.1:p.Asn24713Lys
XM_024453096.1:c.73572C>A (TTN)	XP_024308864.1:p.Asn24524Lys
XM_024453097.1:c.70914C>A (TTN)	XP_024308865.1:p.Asn23638Lys
XM_024453098.1:c.70833C>A (TTN)	XP_024308866.1:p.Asn23611Lys
XM_024453099.1:c.52596C>A (TTN)	XP_024308867.1:p.Asn17532Lys
XM_024453100.1:c.42450C>A (TTN)	XP_024308868.1:p.Asn14150Lys