Canonical Allele Identifier: CA1987083

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs757099797
• ExAC: 2:179411492 G / C
• gnomAD v2: 2-179411492-G-C
• gnomAD v4: 2-178546765-G-C
• MyVariant Identifiers: chr2:g.179411492G>C (hg19) ; chr2:g.178546765G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546765G>C , CM000664.2:g.178546765G>C	GRCh38
NC_000002.11:g.179411492G>C , CM000664.1:g.179411492G>C	GRCh37
NC_000002.10:g.179119738G>C	NCBI36
NG_011618.3:g.289038C>G , LRG_391:g.289038C>G
NG_051363.1:g.28939G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86959C>G (TTN)	ENSP00000343764.6:p.Arg28987Gly
ENST00000342175.11:c.68044C>G (TTN)	ENSP00000340554.6:p.Arg22682Gly
ENST00000359218.10:c.67843C>G (TTN)	ENSP00000352154.5:p.Arg22615Gly
ENST00000342175.10:c.68044C>G (TTN)	ENSP00000340554.6:p.Arg22682Gly
ENST00000342992.10:c.86959C>G (TTN)	ENSP00000343764.6:p.Arg28987Gly
ENST00000359218.9:c.67843C>G (TTN)	ENSP00000352154.5:p.Arg22615Gly
ENST00000460472.6:c.67468C>G (TTN)	ENSP00000434586.1:p.Arg22490Gly
ENST00000589042.5:c.94663C>G (TTN) MANE Select	ENSP00000467141.1:p.Arg31555Gly
ENST00000591111.5:c.89740C>G (TTN)	ENSP00000465570.1:p.Arg29914Gly
ENST00000615779.4:c.89740C>G (TTN)	ENSP00000483597.1:p.Arg29914Gly
NM_001256850.1:c.89740C>G (TTN)	NP_001243779.1:p.Arg29914Gly
NM_001267550.2:c.94663C>G (TTN) MANE Select	NP_001254479.2:p.Arg31555Gly
NM_003319.4:c.67468C>G (TTN)	NP_003310.4:p.Arg22490Gly
NM_133378.4:c.86959C>G (TTN)	NP_596869.4:p.Arg28987Gly
NM_133432.3:c.67843C>G (TTN)	NP_597676.3:p.Arg22615Gly
NM_133437.4:c.68044C>G (TTN)	NP_597681.4:p.Arg22682Gly
NR_038271.1:n.446+23129G>C (TTN-AS1)
NR_038272.1:n.2043+4404G>C (TTN-AS1)
XM_011511729.1:c.93760C>G (TTN)	XP_011510031.1:p.Arg31254Gly
XM_011511730.1:c.67654C>G (TTN)	XP_011510032.1:p.Arg22552Gly
XM_011511731.1:c.67513C>G (TTN)	XP_011510033.1:p.Arg22505Gly
XM_017004819.1:c.93556C>G (TTN)	XP_016860308.1:p.Arg31186Gly
XM_017004820.1:c.88954C>G (TTN)	XP_016860309.1:p.Arg29652Gly
XM_017004821.1:c.88951C>G (TTN)	XP_016860310.1:p.Arg29651Gly
XM_017004822.1:c.85993C>G (TTN)	XP_016860311.1:p.Arg28665Gly
XM_017004823.1:c.67609C>G (TTN)	XP_016860312.1:p.Arg22537Gly
XM_024453094.1:c.89104C>G (TTN)	XP_024308862.1:p.Arg29702Gly
XM_024453095.1:c.89101C>G (TTN)	XP_024308863.1:p.Arg29701Gly
XM_024453096.1:c.88534C>G (TTN)	XP_024308864.1:p.Arg29512Gly
XM_024453097.1:c.85876C>G (TTN)	XP_024308865.1:p.Arg28626Gly
XM_024453098.1:c.85795C>G (TTN)	XP_024308866.1:p.Arg28599Gly
XM_024453099.1:c.67558C>G (TTN)	XP_024308867.1:p.Arg22520Gly
XM_024453100.1:c.57412C>G (TTN)	XP_024308868.1:p.Arg19138Gly