Canonical Allele Identifier: CA1985179

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466747
• ClinVar RCV Id: RCV000552173 ; RCV002491028
• dbSNP Id: rs373610666
• ExAC: 2:179395324 C / T
• gnomAD v2: 2-179395324-C-T
• gnomAD v4: 2-178530597-C-T
• MyVariant Identifiers: chr2:g.179395324C>T (hg19) ; chr2:g.178530597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530597C>T , CM000664.2:g.178530597C>T	GRCh38
NC_000002.11:g.179395324C>T , CM000664.1:g.179395324C>T	GRCh37
NC_000002.10:g.179103570C>T	NCBI36
NG_011618.3:g.305206G>A , LRG_391:g.305206G>A
NG_051363.1:g.12771C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98314G>A (TTN)	ENSP00000343764.6:p.Gly32772Ser
ENST00000342175.11:c.79399G>A (TTN)	ENSP00000340554.6:p.Gly26467Ser
ENST00000359218.10:c.79198G>A (TTN)	ENSP00000352154.5:p.Gly26400Ser
ENST00000342175.10:c.79399G>A (TTN)	ENSP00000340554.6:p.Gly26467Ser
ENST00000342992.10:c.98314G>A (TTN)	ENSP00000343764.6:p.Gly32772Ser
ENST00000359218.9:c.79198G>A (TTN)	ENSP00000352154.5:p.Gly26400Ser
ENST00000460472.6:c.78823G>A (TTN)	ENSP00000434586.1:p.Gly26275Ser
ENST00000589042.5:c.106018G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly35340Ser
ENST00000591111.5:c.101095G>A (TTN)	ENSP00000465570.1:p.Gly33699Ser
ENST00000615779.4:c.101095G>A (TTN)	ENSP00000483597.1:p.Gly33699Ser
NM_001256850.1:c.101095G>A (TTN)	NP_001243779.1:p.Gly33699Ser
NM_001267550.2:c.106018G>A (TTN) MANE Select	NP_001254479.2:p.Gly35340Ser
NM_003319.4:c.78823G>A (TTN)	NP_003310.4:p.Gly26275Ser
NM_133378.4:c.98314G>A (TTN)	NP_596869.4:p.Gly32772Ser
NM_133432.3:c.79198G>A (TTN)	NP_597676.3:p.Gly26400Ser
NM_133437.4:c.79399G>A (TTN)	NP_597681.4:p.Gly26467Ser
NR_038271.1:n.446+6961C>T (TTN-AS1)
NR_038272.1:n.220-5135C>T (TTN-AS1)
XM_011511729.1:c.105115G>A (TTN)	XP_011510031.1:p.Gly35039Ser
XM_011511730.1:c.79009G>A (TTN)	XP_011510032.1:p.Gly26337Ser
XM_011511731.1:c.78868G>A (TTN)	XP_011510033.1:p.Gly26290Ser
XM_017004819.1:c.104911G>A (TTN)	XP_016860308.1:p.Gly34971Ser
XM_017004820.1:c.100309G>A (TTN)	XP_016860309.1:p.Gly33437Ser
XM_017004821.1:c.100306G>A (TTN)	XP_016860310.1:p.Gly33436Ser
XM_017004822.1:c.97348G>A (TTN)	XP_016860311.1:p.Gly32450Ser
XM_017004823.1:c.78964G>A (TTN)	XP_016860312.1:p.Gly26322Ser
XM_024453094.1:c.100459G>A (TTN)	XP_024308862.1:p.Gly33487Ser
XM_024453095.1:c.100456G>A (TTN)	XP_024308863.1:p.Gly33486Ser
XM_024453096.1:c.99889G>A (TTN)	XP_024308864.1:p.Gly33297Ser
XM_024453097.1:c.97231G>A (TTN)	XP_024308865.1:p.Gly32411Ser
XM_024453098.1:c.97150G>A (TTN)	XP_024308866.1:p.Gly32384Ser
XM_024453099.1:c.78913G>A (TTN)	XP_024308867.1:p.Gly26305Ser
XM_024453100.1:c.68767G>A (TTN)	XP_024308868.1:p.Gly22923Ser