Canonical Allele Identifier: CA349456152

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409053G>C (hg19) ; chr2:g.178544326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544326G>C , CM000664.2:g.178544326G>C	GRCh38
NC_000002.11:g.179409053G>C , CM000664.1:g.179409053G>C	GRCh37
NC_000002.10:g.179117299G>C	NCBI36
NG_011618.3:g.291477C>G , LRG_391:g.291477C>G
NG_051363.1:g.26500G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88199C>G (TTN)	ENSP00000343764.6:p.Thr29400Ser
ENST00000342175.11:c.69284C>G (TTN)	ENSP00000340554.6:p.Thr23095Ser
ENST00000359218.10:c.69083C>G (TTN)	ENSP00000352154.5:p.Thr23028Ser
ENST00000342175.10:c.69284C>G (TTN)	ENSP00000340554.6:p.Thr23095Ser
ENST00000342992.10:c.88199C>G (TTN)	ENSP00000343764.6:p.Thr29400Ser
ENST00000359218.9:c.69083C>G (TTN)	ENSP00000352154.5:p.Thr23028Ser
ENST00000460472.6:c.68708C>G (TTN)	ENSP00000434586.1:p.Thr22903Ser
ENST00000589042.5:c.95903C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr31968Ser
ENST00000591111.5:c.90980C>G (TTN)	ENSP00000465570.1:p.Thr30327Ser
ENST00000615779.4:c.90980C>G (TTN)	ENSP00000483597.1:p.Thr30327Ser
NM_001256850.1:c.90980C>G (TTN)	NP_001243779.1:p.Thr30327Ser
NM_001267550.2:c.95903C>G (TTN) MANE Select	NP_001254479.2:p.Thr31968Ser
NM_003319.4:c.68708C>G (TTN)	NP_003310.4:p.Thr22903Ser
NM_133378.4:c.88199C>G (TTN)	NP_596869.4:p.Thr29400Ser
NM_133432.3:c.69083C>G (TTN)	NP_597676.3:p.Thr23028Ser
NM_133437.4:c.69284C>G (TTN)	NP_597681.4:p.Thr23095Ser
NR_038271.1:n.446+20690G>C (TTN-AS1)
NR_038272.1:n.2043+1965G>C (TTN-AS1)
XM_011511729.1:c.95000C>G (TTN)	XP_011510031.1:p.Thr31667Ser
XM_011511730.1:c.68894C>G (TTN)	XP_011510032.1:p.Thr22965Ser
XM_011511731.1:c.68753C>G (TTN)	XP_011510033.1:p.Thr22918Ser
XM_017004819.1:c.94796C>G (TTN)	XP_016860308.1:p.Thr31599Ser
XM_017004820.1:c.90194C>G (TTN)	XP_016860309.1:p.Thr30065Ser
XM_017004821.1:c.90191C>G (TTN)	XP_016860310.1:p.Thr30064Ser
XM_017004822.1:c.87233C>G (TTN)	XP_016860311.1:p.Thr29078Ser
XM_017004823.1:c.68849C>G (TTN)	XP_016860312.1:p.Thr22950Ser
XM_024453094.1:c.90344C>G (TTN)	XP_024308862.1:p.Thr30115Ser
XM_024453095.1:c.90341C>G (TTN)	XP_024308863.1:p.Thr30114Ser
XM_024453096.1:c.89774C>G (TTN)	XP_024308864.1:p.Thr29925Ser
XM_024453097.1:c.87116C>G (TTN)	XP_024308865.1:p.Thr29039Ser
XM_024453098.1:c.87035C>G (TTN)	XP_024308866.1:p.Thr29012Ser
XM_024453099.1:c.68798C>G (TTN)	XP_024308867.1:p.Thr22933Ser
XM_024453100.1:c.58652C>G (TTN)	XP_024308868.1:p.Thr19551Ser