Canonical Allele Identifier: CA349648250

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178573966-G-C
• MyVariant Identifiers: chr2:g.179438693G>C (hg19) ; chr2:g.178573966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573966G>C , CM000664.2:g.178573966G>C	GRCh38
NC_000002.11:g.179438693G>C , CM000664.1:g.179438693G>C	GRCh37
NC_000002.10:g.179146939G>C	NCBI36
NG_011618.3:g.261837C>G , LRG_391:g.261837C>G
NG_051363.1:g.56140G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64462C>G (TTN)	ENSP00000343764.6:p.Arg21488Gly
ENST00000342175.11:c.45547C>G (TTN)	ENSP00000340554.6:p.Arg15183Gly
ENST00000359218.10:c.45346C>G (TTN)	ENSP00000352154.5:p.Arg15116Gly
ENST00000342175.10:c.45547C>G (TTN)	ENSP00000340554.6:p.Arg15183Gly
ENST00000342992.10:c.64462C>G (TTN)	ENSP00000343764.6:p.Arg21488Gly
ENST00000359218.9:c.45346C>G (TTN)	ENSP00000352154.5:p.Arg15116Gly
ENST00000460472.6:c.44971C>G (TTN)	ENSP00000434586.1:p.Arg14991Gly
ENST00000589042.5:c.72166C>G (TTN) MANE Select	ENSP00000467141.1:p.Arg24056Gly
ENST00000591111.5:c.67243C>G (TTN)	ENSP00000465570.1:p.Arg22415Gly
ENST00000615779.4:c.67243C>G (TTN)	ENSP00000483597.1:p.Arg22415Gly
NM_001256850.1:c.67243C>G (TTN)	NP_001243779.1:p.Arg22415Gly
NM_001267550.2:c.72166C>G (TTN) MANE Select	NP_001254479.2:p.Arg24056Gly
NM_003319.4:c.44971C>G (TTN)	NP_003310.4:p.Arg14991Gly
NM_133378.4:c.64462C>G (TTN)	NP_596869.4:p.Arg21488Gly
NM_133432.3:c.45346C>G (TTN)	NP_597676.3:p.Arg15116Gly
NM_133437.4:c.45547C>G (TTN)	NP_597681.4:p.Arg15183Gly
NR_038271.1:n.596+2517G>C (TTN-AS1)
NR_038272.1:n.2044-8606G>C (TTN-AS1)
XM_011511729.1:c.71263C>G (TTN)	XP_011510031.1:p.Arg23755Gly
XM_011511730.1:c.45157C>G (TTN)	XP_011510032.1:p.Arg15053Gly
XM_011511731.1:c.45016C>G (TTN)	XP_011510033.1:p.Arg15006Gly
XM_017004819.1:c.71059C>G (TTN)	XP_016860308.1:p.Arg23687Gly
XM_017004820.1:c.66457C>G (TTN)	XP_016860309.1:p.Arg22153Gly
XM_017004821.1:c.66454C>G (TTN)	XP_016860310.1:p.Arg22152Gly
XM_017004822.1:c.63496C>G (TTN)	XP_016860311.1:p.Arg21166Gly
XM_017004823.1:c.45112C>G (TTN)	XP_016860312.1:p.Arg15038Gly
XM_024453094.1:c.66607C>G (TTN)	XP_024308862.1:p.Arg22203Gly
XM_024453095.1:c.66604C>G (TTN)	XP_024308863.1:p.Arg22202Gly
XM_024453096.1:c.66037C>G (TTN)	XP_024308864.1:p.Arg22013Gly
XM_024453097.1:c.63379C>G (TTN)	XP_024308865.1:p.Arg21127Gly
XM_024453098.1:c.63298C>G (TTN)	XP_024308866.1:p.Arg21100Gly
XM_024453099.1:c.45061C>G (TTN)	XP_024308867.1:p.Arg15021Gly
XM_024453100.1:c.34915C>G (TTN)	XP_024308868.1:p.Arg11639Gly