Canonical Allele Identifier: CA349426904

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1559064081
• gnomAD v4: 2-178537075-G-A
• MyVariant Identifiers: chr2:g.179401802G>A (hg19) ; chr2:g.178537075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537075G>A , CM000664.2:g.178537075G>A	GRCh38
NC_000002.11:g.179401802G>A , CM000664.1:g.179401802G>A	GRCh37
NC_000002.10:g.179110048G>A	NCBI36
NG_011618.3:g.298728C>T , LRG_391:g.298728C>T
NG_051363.1:g.19249G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92330C>T (TTN)	ENSP00000343764.6:p.Ala30777Val
ENST00000342175.11:c.73415C>T (TTN)	ENSP00000340554.6:p.Ala24472Val
ENST00000359218.10:c.73214C>T (TTN)	ENSP00000352154.5:p.Ala24405Val
ENST00000342175.10:c.73415C>T (TTN)	ENSP00000340554.6:p.Ala24472Val
ENST00000342992.10:c.92330C>T (TTN)	ENSP00000343764.6:p.Ala30777Val
ENST00000359218.9:c.73214C>T (TTN)	ENSP00000352154.5:p.Ala24405Val
ENST00000460472.6:c.72839C>T (TTN)	ENSP00000434586.1:p.Ala24280Val
ENST00000589042.5:c.100034C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala33345Val
ENST00000591111.5:c.95111C>T (TTN)	ENSP00000465570.1:p.Ala31704Val
ENST00000615779.4:c.95111C>T (TTN)	ENSP00000483597.1:p.Ala31704Val
NM_001256850.1:c.95111C>T (TTN)	NP_001243779.1:p.Ala31704Val
NM_001267550.2:c.100034C>T (TTN) MANE Select	NP_001254479.2:p.Ala33345Val
NM_003319.4:c.72839C>T (TTN)	NP_003310.4:p.Ala24280Val
NM_133378.4:c.92330C>T (TTN)	NP_596869.4:p.Ala30777Val
NM_133432.3:c.73214C>T (TTN)	NP_597676.3:p.Ala24405Val
NM_133437.4:c.73415C>T (TTN)	NP_597681.4:p.Ala24472Val
NR_038271.1:n.446+13439G>A (TTN-AS1)
NR_038272.1:n.317-286G>A (TTN-AS1)
XM_011511729.1:c.99131C>T (TTN)	XP_011510031.1:p.Ala33044Val
XM_011511730.1:c.73025C>T (TTN)	XP_011510032.1:p.Ala24342Val
XM_011511731.1:c.72884C>T (TTN)	XP_011510033.1:p.Ala24295Val
XM_017004819.1:c.98927C>T (TTN)	XP_016860308.1:p.Ala32976Val
XM_017004820.1:c.94325C>T (TTN)	XP_016860309.1:p.Ala31442Val
XM_017004821.1:c.94322C>T (TTN)	XP_016860310.1:p.Ala31441Val
XM_017004822.1:c.91364C>T (TTN)	XP_016860311.1:p.Ala30455Val
XM_017004823.1:c.72980C>T (TTN)	XP_016860312.1:p.Ala24327Val
XM_024453094.1:c.94475C>T (TTN)	XP_024308862.1:p.Ala31492Val
XM_024453095.1:c.94472C>T (TTN)	XP_024308863.1:p.Ala31491Val
XM_024453096.1:c.93905C>T (TTN)	XP_024308864.1:p.Ala31302Val
XM_024453097.1:c.91247C>T (TTN)	XP_024308865.1:p.Ala30416Val
XM_024453098.1:c.91166C>T (TTN)	XP_024308866.1:p.Ala30389Val
XM_024453099.1:c.72929C>T (TTN)	XP_024308867.1:p.Ala24310Val
XM_024453100.1:c.62783C>T (TTN)	XP_024308868.1:p.Ala20928Val