Canonical Allele Identifier: CA349645244

Gene: TTN

Linked Data

• gnomAD v4: 2-178630264-G-T
• COSMIC: COSM1012494 ; COSM1012496 ; COSM1012497 ; COSM1591399
• MyVariant Identifiers: chr2:g.179494991G>T (hg19) ; chr2:g.178630264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630264G>T , CM000664.2:g.178630264G>T	GRCh38
NC_000002.11:g.179494991G>T , CM000664.1:g.179494991G>T	GRCh37
NC_000002.10:g.179203236G>T	NCBI36
NG_011618.3:g.205539C>A , LRG_391:g.205539C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36554C>A	ENSP00000343764.6:p.Ser12185Tyr
ENST00000342175.11:c.17639C>A	ENSP00000340554.6:p.Ser5880Tyr
ENST00000359218.10:c.17438C>A	ENSP00000352154.5:p.Ser5813Tyr
ENST00000342175.10:c.17639C>A	ENSP00000340554.6:p.Ser5880Tyr
ENST00000342992.10:c.36554C>A	ENSP00000343764.6:p.Ser12185Tyr
ENST00000359218.9:c.17438C>A	ENSP00000352154.5:p.Ser5813Tyr
ENST00000460472.6:c.17063C>A	ENSP00000434586.1:p.Ser5688Tyr
ENST00000589042.5:c.44258C>A MANE Select	ENSP00000467141.1:p.Ser14753Tyr
ENST00000591111.5:c.39335C>A	ENSP00000465570.1:p.Ser13112Tyr
ENST00000615779.4:c.39335C>A	ENSP00000483597.1:p.Ser13112Tyr
NM_001256850.1:c.39335C>A	NP_001243779.1:p.Ser13112Tyr
NM_001267550.2:c.44258C>A MANE Select	NP_001254479.2:p.Ser14753Tyr
NM_003319.4:c.17063C>A	NP_003310.4:p.Ser5688Tyr
NM_133378.4:c.36554C>A	NP_596869.4:p.Ser12185Tyr
NM_133432.3:c.17438C>A	NP_597676.3:p.Ser5813Tyr
NM_133437.4:c.17639C>A	NP_597681.4:p.Ser5880Tyr
XM_011511729.1:c.43355C>A	XP_011510031.1:p.Ser14452Tyr
XM_011511730.1:c.17249C>A	XP_011510032.1:p.Ser5750Tyr
XM_011511731.1:c.17108C>A	XP_011510033.1:p.Ser5703Tyr
XM_017004819.1:c.43151C>A	XP_016860308.1:p.Ser14384Tyr
XM_017004820.1:c.38549C>A	XP_016860309.1:p.Ser12850Tyr
XM_017004821.1:c.38546C>A	XP_016860310.1:p.Ser12849Tyr
XM_017004822.1:c.35588C>A	XP_016860311.1:p.Ser11863Tyr
XM_017004823.1:c.17204C>A	XP_016860312.1:p.Ser5735Tyr
XM_024453094.1:c.38699C>A	XP_024308862.1:p.Ser12900Tyr
XM_024453095.1:c.38696C>A	XP_024308863.1:p.Ser12899Tyr
XM_024453096.1:c.38129C>A	XP_024308864.1:p.Ser12710Tyr
XM_024453097.1:c.35471C>A	XP_024308865.1:p.Ser11824Tyr
XM_024453098.1:c.35390C>A	XP_024308866.1:p.Ser11797Tyr
XM_024453099.1:c.17153C>A	XP_024308867.1:p.Ser5718Tyr
XM_024453100.1:c.7007C>A	XP_024308868.1:p.Ser2336Tyr