Canonical Allele Identifier: CA349500197

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457963T>G (hg19) ; chr2:g.178593236T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593236T>G , CM000664.2:g.178593236T>G	GRCh38
NC_000002.11:g.179457963T>G , CM000664.1:g.179457963T>G	GRCh37
NC_000002.10:g.179166209T>G	NCBI36
NG_011618.3:g.242567A>C , LRG_391:g.242567A>C
NG_051363.1:g.75410T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51268A>C (TTN)	ENSP00000343764.6:p.Asn17090His
ENST00000342175.11:c.32353A>C (TTN)	ENSP00000340554.6:p.Asn10785His
ENST00000359218.10:c.32152A>C (TTN)	ENSP00000352154.5:p.Asn10718His
ENST00000342175.10:c.32353A>C (TTN)	ENSP00000340554.6:p.Asn10785His
ENST00000342992.10:c.51268A>C (TTN)	ENSP00000343764.6:p.Asn17090His
ENST00000359218.9:c.32152A>C (TTN)	ENSP00000352154.5:p.Asn10718His
ENST00000460472.6:c.31777A>C (TTN)	ENSP00000434586.1:p.Asn10593His
ENST00000589042.5:c.58972A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn19658His
ENST00000591111.5:c.54049A>C (TTN)	ENSP00000465570.1:p.Asn18017His
ENST00000615779.4:c.54049A>C (TTN)	ENSP00000483597.1:p.Asn18017His
NM_001256850.1:c.54049A>C (TTN)	NP_001243779.1:p.Asn18017His
NM_001267550.2:c.58972A>C (TTN) MANE Select	NP_001254479.2:p.Asn19658His
NM_003319.4:c.31777A>C (TTN)	NP_003310.4:p.Asn10593His
NM_133378.4:c.51268A>C (TTN)	NP_596869.4:p.Asn17090His
NM_133432.3:c.32152A>C (TTN)	NP_597676.3:p.Asn10718His
NM_133437.4:c.32353A>C (TTN)	NP_597681.4:p.Asn10785His
NR_038271.1:n.597-4360T>G (TTN-AS1)
NR_038272.1:n.3364+1922T>G (TTN-AS1)
XM_011511729.1:c.58069A>C (TTN)	XP_011510031.1:p.Asn19357His
XM_011511730.1:c.31963A>C (TTN)	XP_011510032.1:p.Asn10655His
XM_011511731.1:c.31822A>C (TTN)	XP_011510033.1:p.Asn10608His
XM_017004819.1:c.57865A>C (TTN)	XP_016860308.1:p.Asn19289His
XM_017004820.1:c.53263A>C (TTN)	XP_016860309.1:p.Asn17755His
XM_017004821.1:c.53260A>C (TTN)	XP_016860310.1:p.Asn17754His
XM_017004822.1:c.50302A>C (TTN)	XP_016860311.1:p.Asn16768His
XM_017004823.1:c.31918A>C (TTN)	XP_016860312.1:p.Asn10640His
XM_024453094.1:c.53413A>C (TTN)	XP_024308862.1:p.Asn17805His
XM_024453095.1:c.53410A>C (TTN)	XP_024308863.1:p.Asn17804His
XM_024453096.1:c.52843A>C (TTN)	XP_024308864.1:p.Asn17615His
XM_024453097.1:c.50185A>C (TTN)	XP_024308865.1:p.Asn16729His
XM_024453098.1:c.50104A>C (TTN)	XP_024308866.1:p.Asn16702His
XM_024453099.1:c.31867A>C (TTN)	XP_024308867.1:p.Asn10623His
XM_024453100.1:c.21721A>C (TTN)	XP_024308868.1:p.Asn7241His