Canonical Allele Identifier: CA349645203

Gene: TTN

Linked Data

• gnomAD v4: 2-178630258-G-A
• MyVariant Identifiers: chr2:g.179494985G>A (hg19) ; chr2:g.178630258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630258G>A , CM000664.2:g.178630258G>A	GRCh38
NC_000002.11:g.179494985G>A , CM000664.1:g.179494985G>A	GRCh37
NC_000002.10:g.179203230G>A	NCBI36
NG_011618.3:g.205545C>T , LRG_391:g.205545C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36560C>T	ENSP00000343764.6:p.Ala12187Val
ENST00000342175.11:c.17645C>T	ENSP00000340554.6:p.Ala5882Val
ENST00000359218.10:c.17444C>T	ENSP00000352154.5:p.Ala5815Val
ENST00000342175.10:c.17645C>T	ENSP00000340554.6:p.Ala5882Val
ENST00000342992.10:c.36560C>T	ENSP00000343764.6:p.Ala12187Val
ENST00000359218.9:c.17444C>T	ENSP00000352154.5:p.Ala5815Val
ENST00000460472.6:c.17069C>T	ENSP00000434586.1:p.Ala5690Val
ENST00000589042.5:c.44264C>T MANE Select	ENSP00000467141.1:p.Ala14755Val
ENST00000591111.5:c.39341C>T	ENSP00000465570.1:p.Ala13114Val
ENST00000615779.4:c.39341C>T	ENSP00000483597.1:p.Ala13114Val
NM_001256850.1:c.39341C>T	NP_001243779.1:p.Ala13114Val
NM_001267550.2:c.44264C>T MANE Select	NP_001254479.2:p.Ala14755Val
NM_003319.4:c.17069C>T	NP_003310.4:p.Ala5690Val
NM_133378.4:c.36560C>T	NP_596869.4:p.Ala12187Val
NM_133432.3:c.17444C>T	NP_597676.3:p.Ala5815Val
NM_133437.4:c.17645C>T	NP_597681.4:p.Ala5882Val
XM_011511729.1:c.43361C>T	XP_011510031.1:p.Ala14454Val
XM_011511730.1:c.17255C>T	XP_011510032.1:p.Ala5752Val
XM_011511731.1:c.17114C>T	XP_011510033.1:p.Ala5705Val
XM_017004819.1:c.43157C>T	XP_016860308.1:p.Ala14386Val
XM_017004820.1:c.38555C>T	XP_016860309.1:p.Ala12852Val
XM_017004821.1:c.38552C>T	XP_016860310.1:p.Ala12851Val
XM_017004822.1:c.35594C>T	XP_016860311.1:p.Ala11865Val
XM_017004823.1:c.17210C>T	XP_016860312.1:p.Ala5737Val
XM_024453094.1:c.38705C>T	XP_024308862.1:p.Ala12902Val
XM_024453095.1:c.38702C>T	XP_024308863.1:p.Ala12901Val
XM_024453096.1:c.38135C>T	XP_024308864.1:p.Ala12712Val
XM_024453097.1:c.35477C>T	XP_024308865.1:p.Ala11826Val
XM_024453098.1:c.35396C>T	XP_024308866.1:p.Ala11799Val
XM_024453099.1:c.17159C>T	XP_024308867.1:p.Ala5720Val
XM_024453100.1:c.7013C>T	XP_024308868.1:p.Ala2338Val