Canonical Allele Identifier: CA60953449

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs976373370
• gnomAD v3: 2-178530551-C-T
• gnomAD v4: 2-178530551-C-T
• MyVariant Identifiers: chr2:g.179395278C>T (hg19) ; chr2:g.178530551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530551C>T , CM000664.2:g.178530551C>T	GRCh38
NC_000002.11:g.179395278C>T , CM000664.1:g.179395278C>T	GRCh37
NC_000002.10:g.179103524C>T	NCBI36
NG_011618.3:g.305252G>A , LRG_391:g.305252G>A
NG_051363.1:g.12725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98360G>A (TTN)	ENSP00000343764.6:p.Gly32787Glu
ENST00000342175.11:c.79445G>A (TTN)	ENSP00000340554.6:p.Gly26482Glu
ENST00000359218.10:c.79244G>A (TTN)	ENSP00000352154.5:p.Gly26415Glu
ENST00000342175.10:c.79445G>A (TTN)	ENSP00000340554.6:p.Gly26482Glu
ENST00000342992.10:c.98360G>A (TTN)	ENSP00000343764.6:p.Gly32787Glu
ENST00000359218.9:c.79244G>A (TTN)	ENSP00000352154.5:p.Gly26415Glu
ENST00000460472.6:c.78869G>A (TTN)	ENSP00000434586.1:p.Gly26290Glu
ENST00000589042.5:c.106064G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly35355Glu
ENST00000591111.5:c.101141G>A (TTN)	ENSP00000465570.1:p.Gly33714Glu
ENST00000615779.4:c.101141G>A (TTN)	ENSP00000483597.1:p.Gly33714Glu
NM_001256850.1:c.101141G>A (TTN)	NP_001243779.1:p.Gly33714Glu
NM_001267550.2:c.106064G>A (TTN) MANE Select	NP_001254479.2:p.Gly35355Glu
NM_003319.4:c.78869G>A (TTN)	NP_003310.4:p.Gly26290Glu
NM_133378.4:c.98360G>A (TTN)	NP_596869.4:p.Gly32787Glu
NM_133432.3:c.79244G>A (TTN)	NP_597676.3:p.Gly26415Glu
NM_133437.4:c.79445G>A (TTN)	NP_597681.4:p.Gly26482Glu
NR_038271.1:n.446+6915C>T (TTN-AS1)
NR_038272.1:n.220-5181C>T (TTN-AS1)
XM_011511729.1:c.105161G>A (TTN)	XP_011510031.1:p.Gly35054Glu
XM_011511730.1:c.79055G>A (TTN)	XP_011510032.1:p.Gly26352Glu
XM_011511731.1:c.78914G>A (TTN)	XP_011510033.1:p.Gly26305Glu
XM_017004819.1:c.104957G>A (TTN)	XP_016860308.1:p.Gly34986Glu
XM_017004820.1:c.100355G>A (TTN)	XP_016860309.1:p.Gly33452Glu
XM_017004821.1:c.100352G>A (TTN)	XP_016860310.1:p.Gly33451Glu
XM_017004822.1:c.97394G>A (TTN)	XP_016860311.1:p.Gly32465Glu
XM_017004823.1:c.79010G>A (TTN)	XP_016860312.1:p.Gly26337Glu
XM_024453094.1:c.100505G>A (TTN)	XP_024308862.1:p.Gly33502Glu
XM_024453095.1:c.100502G>A (TTN)	XP_024308863.1:p.Gly33501Glu
XM_024453096.1:c.99935G>A (TTN)	XP_024308864.1:p.Gly33312Glu
XM_024453097.1:c.97277G>A (TTN)	XP_024308865.1:p.Gly32426Glu
XM_024453098.1:c.97196G>A (TTN)	XP_024308866.1:p.Gly32399Glu
XM_024453099.1:c.78959G>A (TTN)	XP_024308867.1:p.Gly26320Glu
XM_024453100.1:c.68813G>A (TTN)	XP_024308868.1:p.Gly22938Glu