Canonical Allele Identifier: CA349467469

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546307-A-G
• MyVariant Identifiers: chr2:g.179411034A>G (hg19) ; chr2:g.178546307A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546307A>G , CM000664.2:g.178546307A>G	GRCh38
NC_000002.11:g.179411034A>G , CM000664.1:g.179411034A>G	GRCh37
NC_000002.10:g.179119280A>G	NCBI36
NG_011618.3:g.289496T>C , LRG_391:g.289496T>C
NG_051363.1:g.28481A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87320T>C (TTN)	ENSP00000343764.6:p.Ile29107Thr
ENST00000342175.11:c.68405T>C (TTN)	ENSP00000340554.6:p.Ile22802Thr
ENST00000359218.10:c.68204T>C (TTN)	ENSP00000352154.5:p.Ile22735Thr
ENST00000342175.10:c.68405T>C (TTN)	ENSP00000340554.6:p.Ile22802Thr
ENST00000342992.10:c.87320T>C (TTN)	ENSP00000343764.6:p.Ile29107Thr
ENST00000359218.9:c.68204T>C (TTN)	ENSP00000352154.5:p.Ile22735Thr
ENST00000460472.6:c.67829T>C (TTN)	ENSP00000434586.1:p.Ile22610Thr
ENST00000589042.5:c.95024T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile31675Thr
ENST00000591111.5:c.90101T>C (TTN)	ENSP00000465570.1:p.Ile30034Thr
ENST00000615779.4:c.90101T>C (TTN)	ENSP00000483597.1:p.Ile30034Thr
NM_001256850.1:c.90101T>C (TTN)	NP_001243779.1:p.Ile30034Thr
NM_001267550.2:c.95024T>C (TTN) MANE Select	NP_001254479.2:p.Ile31675Thr
NM_003319.4:c.67829T>C (TTN)	NP_003310.4:p.Ile22610Thr
NM_133378.4:c.87320T>C (TTN)	NP_596869.4:p.Ile29107Thr
NM_133432.3:c.68204T>C (TTN)	NP_597676.3:p.Ile22735Thr
NM_133437.4:c.68405T>C (TTN)	NP_597681.4:p.Ile22802Thr
NR_038271.1:n.446+22671A>G (TTN-AS1)
NR_038272.1:n.2043+3946A>G (TTN-AS1)
XM_011511729.1:c.94121T>C (TTN)	XP_011510031.1:p.Ile31374Thr
XM_011511730.1:c.68015T>C (TTN)	XP_011510032.1:p.Ile22672Thr
XM_011511731.1:c.67874T>C (TTN)	XP_011510033.1:p.Ile22625Thr
XM_017004819.1:c.93917T>C (TTN)	XP_016860308.1:p.Ile31306Thr
XM_017004820.1:c.89315T>C (TTN)	XP_016860309.1:p.Ile29772Thr
XM_017004821.1:c.89312T>C (TTN)	XP_016860310.1:p.Ile29771Thr
XM_017004822.1:c.86354T>C (TTN)	XP_016860311.1:p.Ile28785Thr
XM_017004823.1:c.67970T>C (TTN)	XP_016860312.1:p.Ile22657Thr
XM_024453094.1:c.89465T>C (TTN)	XP_024308862.1:p.Ile29822Thr
XM_024453095.1:c.89462T>C (TTN)	XP_024308863.1:p.Ile29821Thr
XM_024453096.1:c.88895T>C (TTN)	XP_024308864.1:p.Ile29632Thr
XM_024453097.1:c.86237T>C (TTN)	XP_024308865.1:p.Ile28746Thr
XM_024453098.1:c.86156T>C (TTN)	XP_024308866.1:p.Ile28719Thr
XM_024453099.1:c.67919T>C (TTN)	XP_024308867.1:p.Ile22640Thr
XM_024453100.1:c.57773T>C (TTN)	XP_024308868.1:p.Ile19258Thr