Canonical Allele Identifier: CA349672028

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178577890-C-A
• MyVariant Identifiers: chr2:g.179442617C>A (hg19) ; chr2:g.178577890C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178577890C>A , CM000664.2:g.178577890C>A	GRCh38
NC_000002.11:g.179442617C>A , CM000664.1:g.179442617C>A	GRCh37
NC_000002.10:g.179150863C>A	NCBI36
NG_011618.3:g.257913G>T , LRG_391:g.257913G>T
NG_051363.1:g.60064C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60832G>T (TTN)	ENSP00000343764.6:p.Gly20278Ter
ENST00000342175.11:c.41917G>T (TTN)	ENSP00000340554.6:p.Gly13973Ter
ENST00000359218.10:c.41716G>T (TTN)	ENSP00000352154.5:p.Gly13906Ter
ENST00000342175.10:c.41917G>T (TTN)	ENSP00000340554.6:p.Gly13973Ter
ENST00000342992.10:c.60832G>T (TTN)	ENSP00000343764.6:p.Gly20278Ter
ENST00000359218.9:c.41716G>T (TTN)	ENSP00000352154.5:p.Gly13906Ter
ENST00000460472.6:c.41341G>T (TTN)	ENSP00000434586.1:p.Gly13781Ter
ENST00000589042.5:c.68536G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly22846Ter
ENST00000591111.5:c.63613G>T (TTN)	ENSP00000465570.1:p.Gly21205Ter
ENST00000615779.4:c.63613G>T (TTN)	ENSP00000483597.1:p.Gly21205Ter
NM_001256850.1:c.63613G>T (TTN)	NP_001243779.1:p.Gly21205Ter
NM_001267550.2:c.68536G>T (TTN) MANE Select	NP_001254479.2:p.Gly22846Ter
NM_003319.4:c.41341G>T (TTN)	NP_003310.4:p.Gly13781Ter
NM_133378.4:c.60832G>T (TTN)	NP_596869.4:p.Gly20278Ter
NM_133432.3:c.41716G>T (TTN)	NP_597676.3:p.Gly13906Ter
NM_133437.4:c.41917G>T (TTN)	NP_597681.4:p.Gly13973Ter
NR_038271.1:n.596+6441C>A (TTN-AS1)
NR_038272.1:n.2044-4682C>A (TTN-AS1)
XM_011511729.1:c.67633G>T (TTN)	XP_011510031.1:p.Gly22545Ter
XM_011511730.1:c.41527G>T (TTN)	XP_011510032.1:p.Gly13843Ter
XM_011511731.1:c.41386G>T (TTN)	XP_011510033.1:p.Gly13796Ter
XM_017004819.1:c.67429G>T (TTN)	XP_016860308.1:p.Gly22477Ter
XM_017004820.1:c.62827G>T (TTN)	XP_016860309.1:p.Gly20943Ter
XM_017004821.1:c.62824G>T (TTN)	XP_016860310.1:p.Gly20942Ter
XM_017004822.1:c.59866G>T (TTN)	XP_016860311.1:p.Gly19956Ter
XM_017004823.1:c.41482G>T (TTN)	XP_016860312.1:p.Gly13828Ter
XM_024453094.1:c.62977G>T (TTN)	XP_024308862.1:p.Gly20993Ter
XM_024453095.1:c.62974G>T (TTN)	XP_024308863.1:p.Gly20992Ter
XM_024453096.1:c.62407G>T (TTN)	XP_024308864.1:p.Gly20803Ter
XM_024453097.1:c.59749G>T (TTN)	XP_024308865.1:p.Gly19917Ter
XM_024453098.1:c.59668G>T (TTN)	XP_024308866.1:p.Gly19890Ter
XM_024453099.1:c.41431G>T (TTN)	XP_024308867.1:p.Gly13811Ter
XM_024453100.1:c.31285G>T (TTN)	XP_024308868.1:p.Gly10429Ter