Canonical Allele Identifier: CA1984853

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs555418549
• ExAC: 2:179391749 C / T
• gnomAD v2: 2-179391749-C-T
• gnomAD v3: 2-178527022-C-T
• gnomAD v4: 2-178527022-C-T
• MyVariant Identifiers: chr2:g.179391749C>T (hg19) ; chr2:g.178527022C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100262G>A (TTN)	ENSP00000343764.6:p.Arg33421Gln
ENST00000342175.11:c.81347G>A (TTN)	ENSP00000340554.6:p.Arg27116Gln
ENST00000359218.10:c.81146G>A (TTN)	ENSP00000352154.5:p.Arg27049Gln
ENST00000342175.10:c.81347G>A (TTN)	ENSP00000340554.6:p.Arg27116Gln
ENST00000342992.10:c.100262G>A (TTN)	ENSP00000343764.6:p.Arg33421Gln
ENST00000359218.9:c.81146G>A (TTN)	ENSP00000352154.5:p.Arg27049Gln
ENST00000460472.6:c.80771G>A (TTN)	ENSP00000434586.1:p.Arg26924Gln
ENST00000589042.5:c.107966G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg35989Gln
ENST00000591111.5:c.103043G>A (TTN)	ENSP00000465570.1:p.Arg34348Gln
ENST00000615779.4:c.103043G>A (TTN)	ENSP00000483597.1:p.Arg34348Gln
NM_001256850.1:c.103043G>A (TTN)	NP_001243779.1:p.Arg34348Gln
NM_001267550.2:c.107966G>A (TTN) MANE Select	NP_001254479.2:p.Arg35989Gln
NM_003319.4:c.80771G>A (TTN)	NP_003310.4:p.Arg26924Gln
NM_133378.4:c.100262G>A (TTN)	NP_596869.4:p.Arg33421Gln
NM_133432.3:c.81146G>A (TTN)	NP_597676.3:p.Arg27049Gln
NM_133437.4:c.81347G>A (TTN)	NP_597681.4:p.Arg27116Gln
NR_038271.1:n.446+3386C>T (TTN-AS1)
NR_038272.1:n.219+3386C>T (TTN-AS1)
XM_011511729.1:c.107063G>A (TTN)	XP_011510031.1:p.Arg35688Gln
XM_011511730.1:c.80957G>A (TTN)	XP_011510032.1:p.Arg26986Gln
XM_011511731.1:c.80816G>A (TTN)	XP_011510033.1:p.Arg26939Gln
XM_017004819.1:c.106859G>A (TTN)	XP_016860308.1:p.Arg35620Gln
XM_017004820.1:c.102257G>A (TTN)	XP_016860309.1:p.Arg34086Gln
XM_017004821.1:c.102254G>A (TTN)	XP_016860310.1:p.Arg34085Gln
XM_017004822.1:c.99296G>A (TTN)	XP_016860311.1:p.Arg33099Gln
XM_017004823.1:c.80912G>A (TTN)	XP_016860312.1:p.Arg26971Gln
XM_024453094.1:c.102407G>A (TTN)	XP_024308862.1:p.Arg34136Gln
XM_024453095.1:c.102404G>A (TTN)	XP_024308863.1:p.Arg34135Gln
XM_024453096.1:c.101837G>A (TTN)	XP_024308864.1:p.Arg33946Gln
XM_024453097.1:c.99179G>A (TTN)	XP_024308865.1:p.Arg33060Gln
XM_024453098.1:c.99098G>A (TTN)	XP_024308866.1:p.Arg33033Gln
XM_024453099.1:c.80861G>A (TTN)	XP_024308867.1:p.Arg26954Gln
XM_024453100.1:c.70715G>A (TTN)	XP_024308868.1:p.Arg23572Gln