Canonical Allele Identifier: CA349411867

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396963C>T (hg19) ; chr2:g.178532236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532236C>T , CM000664.2:g.178532236C>T	GRCh38
NC_000002.11:g.179396963C>T , CM000664.1:g.179396963C>T	GRCh37
NC_000002.10:g.179105209C>T	NCBI36
NG_011618.3:g.303567G>A , LRG_391:g.303567G>A
NG_051363.1:g.14410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96675G>A (TTN)	ENSP00000343764.6:p.Met32225Ile
ENST00000342175.11:c.77760G>A (TTN)	ENSP00000340554.6:p.Met25920Ile
ENST00000359218.10:c.77559G>A (TTN)	ENSP00000352154.5:p.Met25853Ile
ENST00000342175.10:c.77760G>A (TTN)	ENSP00000340554.6:p.Met25920Ile
ENST00000342992.10:c.96675G>A (TTN)	ENSP00000343764.6:p.Met32225Ile
ENST00000359218.9:c.77559G>A (TTN)	ENSP00000352154.5:p.Met25853Ile
ENST00000460472.6:c.77184G>A (TTN)	ENSP00000434586.1:p.Met25728Ile
ENST00000589042.5:c.104379G>A (TTN) MANE Select	ENSP00000467141.1:p.Met34793Ile
ENST00000591111.5:c.99456G>A (TTN)	ENSP00000465570.1:p.Met33152Ile
ENST00000615779.4:c.99456G>A (TTN)	ENSP00000483597.1:p.Met33152Ile
NM_001256850.1:c.99456G>A (TTN)	NP_001243779.1:p.Met33152Ile
NM_001267550.2:c.104379G>A (TTN) MANE Select	NP_001254479.2:p.Met34793Ile
NM_003319.4:c.77184G>A (TTN)	NP_003310.4:p.Met25728Ile
NM_133378.4:c.96675G>A (TTN)	NP_596869.4:p.Met32225Ile
NM_133432.3:c.77559G>A (TTN)	NP_597676.3:p.Met25853Ile
NM_133437.4:c.77760G>A (TTN)	NP_597681.4:p.Met25920Ile
NR_038271.1:n.446+8600C>T (TTN-AS1)
NR_038272.1:n.220-3496C>T (TTN-AS1)
XM_011511729.1:c.103476G>A (TTN)	XP_011510031.1:p.Met34492Ile
XM_011511730.1:c.77370G>A (TTN)	XP_011510032.1:p.Met25790Ile
XM_011511731.1:c.77229G>A (TTN)	XP_011510033.1:p.Met25743Ile
XM_017004819.1:c.103272G>A (TTN)	XP_016860308.1:p.Met34424Ile
XM_017004820.1:c.98670G>A (TTN)	XP_016860309.1:p.Met32890Ile
XM_017004821.1:c.98667G>A (TTN)	XP_016860310.1:p.Met32889Ile
XM_017004822.1:c.95709G>A (TTN)	XP_016860311.1:p.Met31903Ile
XM_017004823.1:c.77325G>A (TTN)	XP_016860312.1:p.Met25775Ile
XM_024453094.1:c.98820G>A (TTN)	XP_024308862.1:p.Met32940Ile
XM_024453095.1:c.98817G>A (TTN)	XP_024308863.1:p.Met32939Ile
XM_024453096.1:c.98250G>A (TTN)	XP_024308864.1:p.Met32750Ile
XM_024453097.1:c.95592G>A (TTN)	XP_024308865.1:p.Met31864Ile
XM_024453098.1:c.95511G>A (TTN)	XP_024308866.1:p.Met31837Ile
XM_024453099.1:c.77274G>A (TTN)	XP_024308867.1:p.Met25758Ile
XM_024453100.1:c.67128G>A (TTN)	XP_024308868.1:p.Met22376Ile