Canonical Allele Identifier: CA349618019

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482761A>G (hg19) ; chr2:g.178618034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618034A>G , CM000664.2:g.178618034A>G	GRCh38
NC_000002.11:g.179482761A>G , CM000664.1:g.179482761A>G	GRCh37
NC_000002.10:g.179191006A>G	NCBI36
NG_011618.3:g.217769T>C , LRG_391:g.217769T>C
NG_051363.1:g.100208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39613T>C (TTN)	ENSP00000343764.6:p.Phe13205Leu
ENST00000342175.11:c.20698T>C (TTN)	ENSP00000340554.6:p.Phe6900Leu
ENST00000359218.10:c.20497T>C (TTN)	ENSP00000352154.5:p.Phe6833Leu
ENST00000342175.10:c.20698T>C (TTN)	ENSP00000340554.6:p.Phe6900Leu
ENST00000342992.10:c.39613T>C (TTN)	ENSP00000343764.6:p.Phe13205Leu
ENST00000359218.9:c.20497T>C (TTN)	ENSP00000352154.5:p.Phe6833Leu
ENST00000460472.6:c.20122T>C (TTN)	ENSP00000434586.1:p.Phe6708Leu
ENST00000589042.5:c.47317T>C (TTN) MANE Select	ENSP00000467141.1:p.Phe15773Leu
ENST00000591111.5:c.42394T>C (TTN)	ENSP00000465570.1:p.Phe14132Leu
ENST00000615779.4:c.42394T>C (TTN)	ENSP00000483597.1:p.Phe14132Leu
NM_001256850.1:c.42394T>C (TTN)	NP_001243779.1:p.Phe14132Leu
NM_001267550.2:c.47317T>C (TTN) MANE Select	NP_001254479.2:p.Phe15773Leu
NM_003319.4:c.20122T>C (TTN)	NP_003310.4:p.Phe6708Leu
NM_133378.4:c.39613T>C (TTN)	NP_596869.4:p.Phe13205Leu
NM_133432.3:c.20497T>C (TTN)	NP_597676.3:p.Phe6833Leu
NM_133437.4:c.20698T>C (TTN)	NP_597681.4:p.Phe6900Leu
NR_038271.1:n.1605-1719A>G (TTN-AS1)
XM_011511729.1:c.46414T>C (TTN)	XP_011510031.1:p.Phe15472Leu
XM_011511730.1:c.20308T>C (TTN)	XP_011510032.1:p.Phe6770Leu
XM_011511731.1:c.20167T>C (TTN)	XP_011510033.1:p.Phe6723Leu
XM_017004819.1:c.46210T>C (TTN)	XP_016860308.1:p.Phe15404Leu
XM_017004820.1:c.41608T>C (TTN)	XP_016860309.1:p.Phe13870Leu
XM_017004821.1:c.41605T>C (TTN)	XP_016860310.1:p.Phe13869Leu
XM_017004822.1:c.38647T>C (TTN)	XP_016860311.1:p.Phe12883Leu
XM_017004823.1:c.20263T>C (TTN)	XP_016860312.1:p.Phe6755Leu
XM_024453094.1:c.41758T>C (TTN)	XP_024308862.1:p.Phe13920Leu
XM_024453095.1:c.41755T>C (TTN)	XP_024308863.1:p.Phe13919Leu
XM_024453096.1:c.41188T>C (TTN)	XP_024308864.1:p.Phe13730Leu
XM_024453097.1:c.38530T>C (TTN)	XP_024308865.1:p.Phe12844Leu
XM_024453098.1:c.38449T>C (TTN)	XP_024308866.1:p.Phe12817Leu
XM_024453099.1:c.20212T>C (TTN)	XP_024308867.1:p.Phe6738Leu
XM_024453100.1:c.10066T>C (TTN)	XP_024308868.1:p.Phe3356Leu