Canonical Allele Identifier: CA349618573

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178618189-C-T
• MyVariant Identifiers: chr2:g.179482916C>T (hg19) ; chr2:g.178618189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618189C>T , CM000664.2:g.178618189C>T	GRCh38
NC_000002.11:g.179482916C>T , CM000664.1:g.179482916C>T	GRCh37
NC_000002.10:g.179191161C>T	NCBI36
NG_011618.3:g.217614G>A , LRG_391:g.217614G>A
NG_051363.1:g.100363C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39565G>A (TTN)	ENSP00000343764.6:p.Asp13189Asn
ENST00000342175.11:c.20650G>A (TTN)	ENSP00000340554.6:p.Asp6884Asn
ENST00000359218.10:c.20449G>A (TTN)	ENSP00000352154.5:p.Asp6817Asn
ENST00000342175.10:c.20650G>A (TTN)	ENSP00000340554.6:p.Asp6884Asn
ENST00000342992.10:c.39565G>A (TTN)	ENSP00000343764.6:p.Asp13189Asn
ENST00000359218.9:c.20449G>A (TTN)	ENSP00000352154.5:p.Asp6817Asn
ENST00000460472.6:c.20074G>A (TTN)	ENSP00000434586.1:p.Asp6692Asn
ENST00000589042.5:c.47269G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp15757Asn
ENST00000591111.5:c.42346G>A (TTN)	ENSP00000465570.1:p.Asp14116Asn
ENST00000615779.4:c.42346G>A (TTN)	ENSP00000483597.1:p.Asp14116Asn
NM_001256850.1:c.42346G>A (TTN)	NP_001243779.1:p.Asp14116Asn
NM_001267550.2:c.47269G>A (TTN) MANE Select	NP_001254479.2:p.Asp15757Asn
NM_003319.4:c.20074G>A (TTN)	NP_003310.4:p.Asp6692Asn
NM_133378.4:c.39565G>A (TTN)	NP_596869.4:p.Asp13189Asn
NM_133432.3:c.20449G>A (TTN)	NP_597676.3:p.Asp6817Asn
NM_133437.4:c.20650G>A (TTN)	NP_597681.4:p.Asp6884Asn
NR_038271.1:n.1605-1564C>T (TTN-AS1)
XM_011511729.1:c.46366G>A (TTN)	XP_011510031.1:p.Asp15456Asn
XM_011511730.1:c.20260G>A (TTN)	XP_011510032.1:p.Asp6754Asn
XM_011511731.1:c.20119G>A (TTN)	XP_011510033.1:p.Asp6707Asn
XM_017004819.1:c.46162G>A (TTN)	XP_016860308.1:p.Asp15388Asn
XM_017004820.1:c.41560G>A (TTN)	XP_016860309.1:p.Asp13854Asn
XM_017004821.1:c.41557G>A (TTN)	XP_016860310.1:p.Asp13853Asn
XM_017004822.1:c.38599G>A (TTN)	XP_016860311.1:p.Asp12867Asn
XM_017004823.1:c.20215G>A (TTN)	XP_016860312.1:p.Asp6739Asn
XM_024453094.1:c.41710G>A (TTN)	XP_024308862.1:p.Asp13904Asn
XM_024453095.1:c.41707G>A (TTN)	XP_024308863.1:p.Asp13903Asn
XM_024453096.1:c.41140G>A (TTN)	XP_024308864.1:p.Asp13714Asn
XM_024453097.1:c.38482G>A (TTN)	XP_024308865.1:p.Asp12828Asn
XM_024453098.1:c.38401G>A (TTN)	XP_024308866.1:p.Asp12801Asn
XM_024453099.1:c.20164G>A (TTN)	XP_024308867.1:p.Asp6722Asn
XM_024453100.1:c.10018G>A (TTN)	XP_024308868.1:p.Asp3340Asn