Canonical Allele Identifier: CA349398155

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178527022-C-A
• MyVariant Identifiers: chr2:g.179391749C>A (hg19) ; chr2:g.178527022C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527022C>A , CM000664.2:g.178527022C>A	GRCh38
NC_000002.11:g.179391749C>A , CM000664.1:g.179391749C>A	GRCh37
NC_000002.10:g.179099995C>A	NCBI36
NG_011618.3:g.308781G>T , LRG_391:g.308781G>T
NG_051363.1:g.9196C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100262G>T (TTN)	ENSP00000343764.6:p.Arg33421Leu
ENST00000342175.11:c.81347G>T (TTN)	ENSP00000340554.6:p.Arg27116Leu
ENST00000359218.10:c.81146G>T (TTN)	ENSP00000352154.5:p.Arg27049Leu
ENST00000342175.10:c.81347G>T (TTN)	ENSP00000340554.6:p.Arg27116Leu
ENST00000342992.10:c.100262G>T (TTN)	ENSP00000343764.6:p.Arg33421Leu
ENST00000359218.9:c.81146G>T (TTN)	ENSP00000352154.5:p.Arg27049Leu
ENST00000460472.6:c.80771G>T (TTN)	ENSP00000434586.1:p.Arg26924Leu
ENST00000589042.5:c.107966G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg35989Leu
ENST00000591111.5:c.103043G>T (TTN)	ENSP00000465570.1:p.Arg34348Leu
ENST00000615779.4:c.103043G>T (TTN)	ENSP00000483597.1:p.Arg34348Leu
NM_001256850.1:c.103043G>T (TTN)	NP_001243779.1:p.Arg34348Leu
NM_001267550.2:c.107966G>T (TTN) MANE Select	NP_001254479.2:p.Arg35989Leu
NM_003319.4:c.80771G>T (TTN)	NP_003310.4:p.Arg26924Leu
NM_133378.4:c.100262G>T (TTN)	NP_596869.4:p.Arg33421Leu
NM_133432.3:c.81146G>T (TTN)	NP_597676.3:p.Arg27049Leu
NM_133437.4:c.81347G>T (TTN)	NP_597681.4:p.Arg27116Leu
NR_038271.1:n.446+3386C>A (TTN-AS1)
NR_038272.1:n.219+3386C>A (TTN-AS1)
XM_011511729.1:c.107063G>T (TTN)	XP_011510031.1:p.Arg35688Leu
XM_011511730.1:c.80957G>T (TTN)	XP_011510032.1:p.Arg26986Leu
XM_011511731.1:c.80816G>T (TTN)	XP_011510033.1:p.Arg26939Leu
XM_017004819.1:c.106859G>T (TTN)	XP_016860308.1:p.Arg35620Leu
XM_017004820.1:c.102257G>T (TTN)	XP_016860309.1:p.Arg34086Leu
XM_017004821.1:c.102254G>T (TTN)	XP_016860310.1:p.Arg34085Leu
XM_017004822.1:c.99296G>T (TTN)	XP_016860311.1:p.Arg33099Leu
XM_017004823.1:c.80912G>T (TTN)	XP_016860312.1:p.Arg26971Leu
XM_024453094.1:c.102407G>T (TTN)	XP_024308862.1:p.Arg34136Leu
XM_024453095.1:c.102404G>T (TTN)	XP_024308863.1:p.Arg34135Leu
XM_024453096.1:c.101837G>T (TTN)	XP_024308864.1:p.Arg33946Leu
XM_024453097.1:c.99179G>T (TTN)	XP_024308865.1:p.Arg33060Leu
XM_024453098.1:c.99098G>T (TTN)	XP_024308866.1:p.Arg33033Leu
XM_024453099.1:c.80861G>T (TTN)	XP_024308867.1:p.Arg26954Leu
XM_024453100.1:c.70715G>T (TTN)	XP_024308868.1:p.Arg23572Leu