Canonical Allele Identifier: CA349646371

Gene: TTN

Linked Data

• gnomAD v4: 2-178630934-A-G
• MyVariant Identifiers: chr2:g.179495661A>G (hg19) ; chr2:g.178630934A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630934A>G , CM000664.2:g.178630934A>G	GRCh38
NC_000002.11:g.179495661A>G , CM000664.1:g.179495661A>G	GRCh37
NC_000002.10:g.179203906A>G	NCBI36
NG_011618.3:g.204869T>C , LRG_391:g.204869T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36320T>C	ENSP00000343764.6:p.Ile12107Thr
ENST00000342175.11:c.17405T>C	ENSP00000340554.6:p.Ile5802Thr
ENST00000359218.10:c.17204T>C	ENSP00000352154.5:p.Ile5735Thr
ENST00000342175.10:c.17405T>C	ENSP00000340554.6:p.Ile5802Thr
ENST00000342992.10:c.36320T>C	ENSP00000343764.6:p.Ile12107Thr
ENST00000359218.9:c.17204T>C	ENSP00000352154.5:p.Ile5735Thr
ENST00000460472.6:c.16829T>C	ENSP00000434586.1:p.Ile5610Thr
ENST00000589042.5:c.44024T>C MANE Select	ENSP00000467141.1:p.Ile14675Thr
ENST00000591111.5:c.39101T>C	ENSP00000465570.1:p.Ile13034Thr
ENST00000615779.4:c.39101T>C	ENSP00000483597.1:p.Ile13034Thr
NM_001256850.1:c.39101T>C	NP_001243779.1:p.Ile13034Thr
NM_001267550.2:c.44024T>C MANE Select	NP_001254479.2:p.Ile14675Thr
NM_003319.4:c.16829T>C	NP_003310.4:p.Ile5610Thr
NM_133378.4:c.36320T>C	NP_596869.4:p.Ile12107Thr
NM_133432.3:c.17204T>C	NP_597676.3:p.Ile5735Thr
NM_133437.4:c.17405T>C	NP_597681.4:p.Ile5802Thr
XM_011511729.1:c.43121T>C	XP_011510031.1:p.Ile14374Thr
XM_011511730.1:c.17015T>C	XP_011510032.1:p.Ile5672Thr
XM_011511731.1:c.16874T>C	XP_011510033.1:p.Ile5625Thr
XM_017004819.1:c.42917T>C	XP_016860308.1:p.Ile14306Thr
XM_017004820.1:c.38315T>C	XP_016860309.1:p.Ile12772Thr
XM_017004821.1:c.38312T>C	XP_016860310.1:p.Ile12771Thr
XM_017004822.1:c.35354T>C	XP_016860311.1:p.Ile11785Thr
XM_017004823.1:c.16970T>C	XP_016860312.1:p.Ile5657Thr
XM_024453094.1:c.38465T>C	XP_024308862.1:p.Ile12822Thr
XM_024453095.1:c.38462T>C	XP_024308863.1:p.Ile12821Thr
XM_024453096.1:c.37895T>C	XP_024308864.1:p.Ile12632Thr
XM_024453097.1:c.35237T>C	XP_024308865.1:p.Ile11746Thr
XM_024453098.1:c.35156T>C	XP_024308866.1:p.Ile11719Thr
XM_024453099.1:c.16919T>C	XP_024308867.1:p.Ile5640Thr
XM_024453100.1:c.6773T>C	XP_024308868.1:p.Ile2258Thr