Canonical Allele Identifier: CA349545240

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179467065G>C (hg19) ; chr2:g.178602338G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602338G>C , CM000664.2:g.178602338G>C	GRCh38
NC_000002.11:g.179467065G>C , CM000664.1:g.179467065G>C	GRCh37
NC_000002.10:g.179175310G>C	NCBI36
NG_011618.3:g.233465C>G , LRG_391:g.233465C>G
NG_051363.1:g.84512G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47360C>G (TTN)	ENSP00000343764.6:p.Ala15787Gly
ENST00000342175.11:c.28445C>G (TTN)	ENSP00000340554.6:p.Ala9482Gly
ENST00000359218.10:c.28244C>G (TTN)	ENSP00000352154.5:p.Ala9415Gly
ENST00000342175.10:c.28445C>G (TTN)	ENSP00000340554.6:p.Ala9482Gly
ENST00000342992.10:c.47360C>G (TTN)	ENSP00000343764.6:p.Ala15787Gly
ENST00000359218.9:c.28244C>G (TTN)	ENSP00000352154.5:p.Ala9415Gly
ENST00000460472.6:c.27869C>G (TTN)	ENSP00000434586.1:p.Ala9290Gly
ENST00000589042.5:c.55064C>G (TTN) MANE Select	ENSP00000467141.1:p.Ala18355Gly
ENST00000591111.5:c.50141C>G (TTN)	ENSP00000465570.1:p.Ala16714Gly
ENST00000615779.4:c.50141C>G (TTN)	ENSP00000483597.1:p.Ala16714Gly
NM_001256850.1:c.50141C>G (TTN)	NP_001243779.1:p.Ala16714Gly
NM_001267550.2:c.55064C>G (TTN) MANE Select	NP_001254479.2:p.Ala18355Gly
NM_003319.4:c.27869C>G (TTN)	NP_003310.4:p.Ala9290Gly
NM_133378.4:c.47360C>G (TTN)	NP_596869.4:p.Ala15787Gly
NM_133432.3:c.28244C>G (TTN)	NP_597676.3:p.Ala9415Gly
NM_133437.4:c.28445C>G (TTN)	NP_597681.4:p.Ala9482Gly
NR_038271.1:n.682+4657G>C (TTN-AS1)
NR_038272.1:n.3917+1671G>C (TTN-AS1)
XM_011511729.1:c.54161C>G (TTN)	XP_011510031.1:p.Ala18054Gly
XM_011511730.1:c.28055C>G (TTN)	XP_011510032.1:p.Ala9352Gly
XM_011511731.1:c.27914C>G (TTN)	XP_011510033.1:p.Ala9305Gly
XM_017004819.1:c.53957C>G (TTN)	XP_016860308.1:p.Ala17986Gly
XM_017004820.1:c.49355C>G (TTN)	XP_016860309.1:p.Ala16452Gly
XM_017004821.1:c.49352C>G (TTN)	XP_016860310.1:p.Ala16451Gly
XM_017004822.1:c.46394C>G (TTN)	XP_016860311.1:p.Ala15465Gly
XM_017004823.1:c.28010C>G (TTN)	XP_016860312.1:p.Ala9337Gly
XM_024453094.1:c.49505C>G (TTN)	XP_024308862.1:p.Ala16502Gly
XM_024453095.1:c.49502C>G (TTN)	XP_024308863.1:p.Ala16501Gly
XM_024453096.1:c.48935C>G (TTN)	XP_024308864.1:p.Ala16312Gly
XM_024453097.1:c.46277C>G (TTN)	XP_024308865.1:p.Ala15426Gly
XM_024453098.1:c.46196C>G (TTN)	XP_024308866.1:p.Ala15399Gly
XM_024453099.1:c.27959C>G (TTN)	XP_024308867.1:p.Ala9320Gly
XM_024453100.1:c.17813C>G (TTN)	XP_024308868.1:p.Ala5938Gly