Canonical Allele Identifier: CA349423122

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178579308-T-C
• COSMIC: COSM2900220 ; COSM2900221 ; COSM2900222 ; COSM2900223
• MyVariant Identifiers: chr2:g.179444035T>C (hg19) ; chr2:g.178579308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579308T>C , CM000664.2:g.178579308T>C	GRCh38
NC_000002.11:g.179444035T>C , CM000664.1:g.179444035T>C	GRCh37
NC_000002.10:g.179152281T>C	NCBI36
NG_011618.3:g.256495A>G , LRG_391:g.256495A>G
NG_051363.1:g.61482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60018A>G (TTN)	ENSP00000343764.6:p.Ile20006Met
ENST00000342175.11:c.41103A>G (TTN)	ENSP00000340554.6:p.Ile13701Met
ENST00000359218.10:c.40902A>G (TTN)	ENSP00000352154.5:p.Ile13634Met
ENST00000342175.10:c.41103A>G (TTN)	ENSP00000340554.6:p.Ile13701Met
ENST00000342992.10:c.60018A>G (TTN)	ENSP00000343764.6:p.Ile20006Met
ENST00000359218.9:c.40902A>G (TTN)	ENSP00000352154.5:p.Ile13634Met
ENST00000460472.6:c.40527A>G (TTN)	ENSP00000434586.1:p.Ile13509Met
ENST00000589042.5:c.67722A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile22574Met
ENST00000591111.5:c.62799A>G (TTN)	ENSP00000465570.1:p.Ile20933Met
ENST00000615779.4:c.62799A>G (TTN)	ENSP00000483597.1:p.Ile20933Met
NM_001256850.1:c.62799A>G (TTN)	NP_001243779.1:p.Ile20933Met
NM_001267550.2:c.67722A>G (TTN) MANE Select	NP_001254479.2:p.Ile22574Met
NM_003319.4:c.40527A>G (TTN)	NP_003310.4:p.Ile13509Met
NM_133378.4:c.60018A>G (TTN)	NP_596869.4:p.Ile20006Met
NM_133432.3:c.40902A>G (TTN)	NP_597676.3:p.Ile13634Met
NM_133437.4:c.41103A>G (TTN)	NP_597681.4:p.Ile13701Met
NR_038271.1:n.596+7859T>C (TTN-AS1)
NR_038272.1:n.2044-3264T>C (TTN-AS1)
XM_011511729.1:c.66819A>G (TTN)	XP_011510031.1:p.Ile22273Met
XM_011511730.1:c.40713A>G (TTN)	XP_011510032.1:p.Ile13571Met
XM_011511731.1:c.40572A>G (TTN)	XP_011510033.1:p.Ile13524Met
XM_017004819.1:c.66615A>G (TTN)	XP_016860308.1:p.Ile22205Met
XM_017004820.1:c.62013A>G (TTN)	XP_016860309.1:p.Ile20671Met
XM_017004821.1:c.62010A>G (TTN)	XP_016860310.1:p.Ile20670Met
XM_017004822.1:c.59052A>G (TTN)	XP_016860311.1:p.Ile19684Met
XM_017004823.1:c.40668A>G (TTN)	XP_016860312.1:p.Ile13556Met
XM_024453094.1:c.62163A>G (TTN)	XP_024308862.1:p.Ile20721Met
XM_024453095.1:c.62160A>G (TTN)	XP_024308863.1:p.Ile20720Met
XM_024453096.1:c.61593A>G (TTN)	XP_024308864.1:p.Ile20531Met
XM_024453097.1:c.58935A>G (TTN)	XP_024308865.1:p.Ile19645Met
XM_024453098.1:c.58854A>G (TTN)	XP_024308866.1:p.Ile19618Met
XM_024453099.1:c.40617A>G (TTN)	XP_024308867.1:p.Ile13539Met
XM_024453100.1:c.30471A>G (TTN)	XP_024308868.1:p.Ile10157Met