Canonical Allele Identifier: CA349427700

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1430566252
• gnomAD v2: 2-179402254-G-A
• gnomAD v4: 2-178537527-G-A
• MyVariant Identifiers: chr2:g.179402254G>A (hg19) ; chr2:g.178537527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537527G>A , CM000664.2:g.178537527G>A	GRCh38
NC_000002.11:g.179402254G>A , CM000664.1:g.179402254G>A	GRCh37
NC_000002.10:g.179110500G>A	NCBI36
NG_011618.3:g.298276C>T , LRG_391:g.298276C>T
NG_051363.1:g.19701G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91976C>T (TTN)	ENSP00000343764.6:p.Ala30659Val
ENST00000342175.11:c.73061C>T (TTN)	ENSP00000340554.6:p.Ala24354Val
ENST00000359218.10:c.72860C>T (TTN)	ENSP00000352154.5:p.Ala24287Val
ENST00000342175.10:c.73061C>T (TTN)	ENSP00000340554.6:p.Ala24354Val
ENST00000342992.10:c.91976C>T (TTN)	ENSP00000343764.6:p.Ala30659Val
ENST00000359218.9:c.72860C>T (TTN)	ENSP00000352154.5:p.Ala24287Val
ENST00000460472.6:c.72485C>T (TTN)	ENSP00000434586.1:p.Ala24162Val
ENST00000589042.5:c.99680C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala33227Val
ENST00000591111.5:c.94757C>T (TTN)	ENSP00000465570.1:p.Ala31586Val
ENST00000615779.4:c.94757C>T (TTN)	ENSP00000483597.1:p.Ala31586Val
NM_001256850.1:c.94757C>T (TTN)	NP_001243779.1:p.Ala31586Val
NM_001267550.2:c.99680C>T (TTN) MANE Select	NP_001254479.2:p.Ala33227Val
NM_003319.4:c.72485C>T (TTN)	NP_003310.4:p.Ala24162Val
NM_133378.4:c.91976C>T (TTN)	NP_596869.4:p.Ala30659Val
NM_133432.3:c.72860C>T (TTN)	NP_597676.3:p.Ala24287Val
NM_133437.4:c.73061C>T (TTN)	NP_597681.4:p.Ala24354Val
NR_038271.1:n.446+13891G>A (TTN-AS1)
NR_038272.1:n.483G>A (TTN-AS1)
XM_011511729.1:c.98777C>T (TTN)	XP_011510031.1:p.Ala32926Val
XM_011511730.1:c.72671C>T (TTN)	XP_011510032.1:p.Ala24224Val
XM_011511731.1:c.72530C>T (TTN)	XP_011510033.1:p.Ala24177Val
XM_017004819.1:c.98573C>T (TTN)	XP_016860308.1:p.Ala32858Val
XM_017004820.1:c.93971C>T (TTN)	XP_016860309.1:p.Ala31324Val
XM_017004821.1:c.93968C>T (TTN)	XP_016860310.1:p.Ala31323Val
XM_017004822.1:c.91010C>T (TTN)	XP_016860311.1:p.Ala30337Val
XM_017004823.1:c.72626C>T (TTN)	XP_016860312.1:p.Ala24209Val
XM_024453094.1:c.94121C>T (TTN)	XP_024308862.1:p.Ala31374Val
XM_024453095.1:c.94118C>T (TTN)	XP_024308863.1:p.Ala31373Val
XM_024453096.1:c.93551C>T (TTN)	XP_024308864.1:p.Ala31184Val
XM_024453097.1:c.90893C>T (TTN)	XP_024308865.1:p.Ala30298Val
XM_024453098.1:c.90812C>T (TTN)	XP_024308866.1:p.Ala30271Val
XM_024453099.1:c.72575C>T (TTN)	XP_024308867.1:p.Ala24192Val
XM_024453100.1:c.62429C>T (TTN)	XP_024308868.1:p.Ala20810Val