Canonical Allele Identifier: CA349435951

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449296C>A (hg19) ; chr2:g.178584569C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584569C>A , CM000664.2:g.178584569C>A	GRCh38
NC_000002.11:g.179449296C>A , CM000664.1:g.179449296C>A	GRCh37
NC_000002.10:g.179157542C>A	NCBI36
NG_011618.3:g.251234G>T , LRG_391:g.251234G>T
NG_051363.1:g.66743C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57278G>T (TTN)	ENSP00000343764.6:p.Ser19093Ile
ENST00000342175.11:c.38363G>T (TTN)	ENSP00000340554.6:p.Ser12788Ile
ENST00000359218.10:c.38162G>T (TTN)	ENSP00000352154.5:p.Ser12721Ile
ENST00000342175.10:c.38363G>T (TTN)	ENSP00000340554.6:p.Ser12788Ile
ENST00000342992.10:c.57278G>T (TTN)	ENSP00000343764.6:p.Ser19093Ile
ENST00000359218.9:c.38162G>T (TTN)	ENSP00000352154.5:p.Ser12721Ile
ENST00000460472.6:c.37787G>T (TTN)	ENSP00000434586.1:p.Ser12596Ile
ENST00000589042.5:c.64982G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser21661Ile
ENST00000591111.5:c.60059G>T (TTN)	ENSP00000465570.1:p.Ser20020Ile
ENST00000615779.4:c.60059G>T (TTN)	ENSP00000483597.1:p.Ser20020Ile
NM_001256850.1:c.60059G>T (TTN)	NP_001243779.1:p.Ser20020Ile
NM_001267550.2:c.64982G>T (TTN) MANE Select	NP_001254479.2:p.Ser21661Ile
NM_003319.4:c.37787G>T (TTN)	NP_003310.4:p.Ser12596Ile
NM_133378.4:c.57278G>T (TTN)	NP_596869.4:p.Ser19093Ile
NM_133432.3:c.38162G>T (TTN)	NP_597676.3:p.Ser12721Ile
NM_133437.4:c.38363G>T (TTN)	NP_597681.4:p.Ser12788Ile
NR_038271.1:n.597-13027C>A (TTN-AS1)
NR_038272.1:n.2768-4C>A (TTN-AS1)
XM_011511729.1:c.64079G>T (TTN)	XP_011510031.1:p.Ser21360Ile
XM_011511730.1:c.37973G>T (TTN)	XP_011510032.1:p.Ser12658Ile
XM_011511731.1:c.37832G>T (TTN)	XP_011510033.1:p.Ser12611Ile
XM_017004819.1:c.63875G>T (TTN)	XP_016860308.1:p.Ser21292Ile
XM_017004820.1:c.59273G>T (TTN)	XP_016860309.1:p.Ser19758Ile
XM_017004821.1:c.59270G>T (TTN)	XP_016860310.1:p.Ser19757Ile
XM_017004822.1:c.56312G>T (TTN)	XP_016860311.1:p.Ser18771Ile
XM_017004823.1:c.37928G>T (TTN)	XP_016860312.1:p.Ser12643Ile
XM_024453094.1:c.59423G>T (TTN)	XP_024308862.1:p.Ser19808Ile
XM_024453095.1:c.59420G>T (TTN)	XP_024308863.1:p.Ser19807Ile
XM_024453096.1:c.58853G>T (TTN)	XP_024308864.1:p.Ser19618Ile
XM_024453097.1:c.56195G>T (TTN)	XP_024308865.1:p.Ser18732Ile
XM_024453098.1:c.56114G>T (TTN)	XP_024308866.1:p.Ser18705Ile
XM_024453099.1:c.37877G>T (TTN)	XP_024308867.1:p.Ser12626Ile
XM_024453100.1:c.27731G>T (TTN)	XP_024308868.1:p.Ser9244Ile