Canonical Allele Identifier: CA349604995

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179478656C>T (hg19) ; chr2:g.178613929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613929C>T , CM000664.2:g.178613929C>T	GRCh38
NC_000002.11:g.179478656C>T , CM000664.1:g.179478656C>T	GRCh37
NC_000002.10:g.179186901C>T	NCBI36
NG_011618.3:g.221874G>A , LRG_391:g.221874G>A
NG_051363.1:g.96103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41650G>A (TTN)	ENSP00000343764.6:p.Gly13884Ser
ENST00000342175.11:c.22735G>A (TTN)	ENSP00000340554.6:p.Gly7579Ser
ENST00000359218.10:c.22534G>A (TTN)	ENSP00000352154.5:p.Gly7512Ser
ENST00000342175.10:c.22735G>A (TTN)	ENSP00000340554.6:p.Gly7579Ser
ENST00000342992.10:c.41650G>A (TTN)	ENSP00000343764.6:p.Gly13884Ser
ENST00000359218.9:c.22534G>A (TTN)	ENSP00000352154.5:p.Gly7512Ser
ENST00000460472.6:c.22159G>A (TTN)	ENSP00000434586.1:p.Gly7387Ser
ENST00000589042.5:c.49354G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly16452Ser
ENST00000591111.5:c.44431G>A (TTN)	ENSP00000465570.1:p.Gly14811Ser
ENST00000615779.4:c.44431G>A (TTN)	ENSP00000483597.1:p.Gly14811Ser
NM_001256850.1:c.44431G>A (TTN)	NP_001243779.1:p.Gly14811Ser
NM_001267550.2:c.49354G>A (TTN) MANE Select	NP_001254479.2:p.Gly16452Ser
NM_003319.4:c.22159G>A (TTN)	NP_003310.4:p.Gly7387Ser
NM_133378.4:c.41650G>A (TTN)	NP_596869.4:p.Gly13884Ser
NM_133432.3:c.22534G>A (TTN)	NP_597676.3:p.Gly7512Ser
NM_133437.4:c.22735G>A (TTN)	NP_597681.4:p.Gly7579Ser
NR_038271.1:n.783-106C>T (TTN-AS1)
XM_011511729.1:c.48451G>A (TTN)	XP_011510031.1:p.Gly16151Ser
XM_011511730.1:c.22345G>A (TTN)	XP_011510032.1:p.Gly7449Ser
XM_011511731.1:c.22204G>A (TTN)	XP_011510033.1:p.Gly7402Ser
XM_017004819.1:c.48247G>A (TTN)	XP_016860308.1:p.Gly16083Ser
XM_017004820.1:c.43645G>A (TTN)	XP_016860309.1:p.Gly14549Ser
XM_017004821.1:c.43642G>A (TTN)	XP_016860310.1:p.Gly14548Ser
XM_017004822.1:c.40684G>A (TTN)	XP_016860311.1:p.Gly13562Ser
XM_017004823.1:c.22300G>A (TTN)	XP_016860312.1:p.Gly7434Ser
XM_024453094.1:c.43795G>A (TTN)	XP_024308862.1:p.Gly14599Ser
XM_024453095.1:c.43792G>A (TTN)	XP_024308863.1:p.Gly14598Ser
XM_024453096.1:c.43225G>A (TTN)	XP_024308864.1:p.Gly14409Ser
XM_024453097.1:c.40567G>A (TTN)	XP_024308865.1:p.Gly13523Ser
XM_024453098.1:c.40486G>A (TTN)	XP_024308866.1:p.Gly13496Ser
XM_024453099.1:c.22249G>A (TTN)	XP_024308867.1:p.Gly7417Ser
XM_024453100.1:c.12103G>A (TTN)	XP_024308868.1:p.Gly4035Ser