Canonical Allele Identifier: CA349457452

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1365026291
• gnomAD v2: 2-179409154-C-T
• gnomAD v4: 2-178544427-C-T
• MyVariant Identifiers: chr2:g.179409154C>T (hg19) ; chr2:g.178544427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544427C>T , CM000664.2:g.178544427C>T	GRCh38
NC_000002.11:g.179409154C>T , CM000664.1:g.179409154C>T	GRCh37
NC_000002.10:g.179117400C>T	NCBI36
NG_011618.3:g.291376G>A , LRG_391:g.291376G>A
NG_051363.1:g.26601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88098G>A (TTN)	ENSP00000343764.6:p.Met29366Ile
ENST00000342175.11:c.69183G>A (TTN)	ENSP00000340554.6:p.Met23061Ile
ENST00000359218.10:c.68982G>A (TTN)	ENSP00000352154.5:p.Met22994Ile
ENST00000342175.10:c.69183G>A (TTN)	ENSP00000340554.6:p.Met23061Ile
ENST00000342992.10:c.88098G>A (TTN)	ENSP00000343764.6:p.Met29366Ile
ENST00000359218.9:c.68982G>A (TTN)	ENSP00000352154.5:p.Met22994Ile
ENST00000460472.6:c.68607G>A (TTN)	ENSP00000434586.1:p.Met22869Ile
ENST00000589042.5:c.95802G>A (TTN) MANE Select	ENSP00000467141.1:p.Met31934Ile
ENST00000591111.5:c.90879G>A (TTN)	ENSP00000465570.1:p.Met30293Ile
ENST00000615779.4:c.90879G>A (TTN)	ENSP00000483597.1:p.Met30293Ile
NM_001256850.1:c.90879G>A (TTN)	NP_001243779.1:p.Met30293Ile
NM_001267550.2:c.95802G>A (TTN) MANE Select	NP_001254479.2:p.Met31934Ile
NM_003319.4:c.68607G>A (TTN)	NP_003310.4:p.Met22869Ile
NM_133378.4:c.88098G>A (TTN)	NP_596869.4:p.Met29366Ile
NM_133432.3:c.68982G>A (TTN)	NP_597676.3:p.Met22994Ile
NM_133437.4:c.69183G>A (TTN)	NP_597681.4:p.Met23061Ile
NR_038271.1:n.446+20791C>T (TTN-AS1)
NR_038272.1:n.2043+2066C>T (TTN-AS1)
XM_011511729.1:c.94899G>A (TTN)	XP_011510031.1:p.Met31633Ile
XM_011511730.1:c.68793G>A (TTN)	XP_011510032.1:p.Met22931Ile
XM_011511731.1:c.68652G>A (TTN)	XP_011510033.1:p.Met22884Ile
XM_017004819.1:c.94695G>A (TTN)	XP_016860308.1:p.Met31565Ile
XM_017004820.1:c.90093G>A (TTN)	XP_016860309.1:p.Met30031Ile
XM_017004821.1:c.90090G>A (TTN)	XP_016860310.1:p.Met30030Ile
XM_017004822.1:c.87132G>A (TTN)	XP_016860311.1:p.Met29044Ile
XM_017004823.1:c.68748G>A (TTN)	XP_016860312.1:p.Met22916Ile
XM_024453094.1:c.90243G>A (TTN)	XP_024308862.1:p.Met30081Ile
XM_024453095.1:c.90240G>A (TTN)	XP_024308863.1:p.Met30080Ile
XM_024453096.1:c.89673G>A (TTN)	XP_024308864.1:p.Met29891Ile
XM_024453097.1:c.87015G>A (TTN)	XP_024308865.1:p.Met29005Ile
XM_024453098.1:c.86934G>A (TTN)	XP_024308866.1:p.Met28978Ile
XM_024453099.1:c.68697G>A (TTN)	XP_024308867.1:p.Met22899Ile
XM_024453100.1:c.58551G>A (TTN)	XP_024308868.1:p.Met19517Ile