Canonical Allele Identifier: CA349436047

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2048545440
• gnomAD v4: 2-178584671-A-C
• MyVariant Identifiers: chr2:g.179449398A>C (hg19) ; chr2:g.178584671A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584671A>C , CM000664.2:g.178584671A>C	GRCh38
NC_000002.11:g.179449398A>C , CM000664.1:g.179449398A>C	GRCh37
NC_000002.10:g.179157644A>C	NCBI36
NG_011618.3:g.251132T>G , LRG_391:g.251132T>G
NG_051363.1:g.66845A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57266T>G (TTN)	ENSP00000343764.6:p.Phe19089Cys
ENST00000342175.11:c.38351T>G (TTN)	ENSP00000340554.6:p.Phe12784Cys
ENST00000359218.10:c.38150T>G (TTN)	ENSP00000352154.5:p.Phe12717Cys
ENST00000342175.10:c.38351T>G (TTN)	ENSP00000340554.6:p.Phe12784Cys
ENST00000342992.10:c.57266T>G (TTN)	ENSP00000343764.6:p.Phe19089Cys
ENST00000359218.9:c.38150T>G (TTN)	ENSP00000352154.5:p.Phe12717Cys
ENST00000460472.6:c.37775T>G (TTN)	ENSP00000434586.1:p.Phe12592Cys
ENST00000589042.5:c.64970T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe21657Cys
ENST00000591111.5:c.60047T>G (TTN)	ENSP00000465570.1:p.Phe20016Cys
ENST00000615779.4:c.60047T>G (TTN)	ENSP00000483597.1:p.Phe20016Cys
NM_001256850.1:c.60047T>G (TTN)	NP_001243779.1:p.Phe20016Cys
NM_001267550.2:c.64970T>G (TTN) MANE Select	NP_001254479.2:p.Phe21657Cys
NM_003319.4:c.37775T>G (TTN)	NP_003310.4:p.Phe12592Cys
NM_133378.4:c.57266T>G (TTN)	NP_596869.4:p.Phe19089Cys
NM_133432.3:c.38150T>G (TTN)	NP_597676.3:p.Phe12717Cys
NM_133437.4:c.38351T>G (TTN)	NP_597681.4:p.Phe12784Cys
NR_038271.1:n.597-12925A>C (TTN-AS1)
NR_038272.1:n.2866A>C (TTN-AS1)
XM_011511729.1:c.64067T>G (TTN)	XP_011510031.1:p.Phe21356Cys
XM_011511730.1:c.37961T>G (TTN)	XP_011510032.1:p.Phe12654Cys
XM_011511731.1:c.37820T>G (TTN)	XP_011510033.1:p.Phe12607Cys
XM_017004819.1:c.63863T>G (TTN)	XP_016860308.1:p.Phe21288Cys
XM_017004820.1:c.59261T>G (TTN)	XP_016860309.1:p.Phe19754Cys
XM_017004821.1:c.59258T>G (TTN)	XP_016860310.1:p.Phe19753Cys
XM_017004822.1:c.56300T>G (TTN)	XP_016860311.1:p.Phe18767Cys
XM_017004823.1:c.37916T>G (TTN)	XP_016860312.1:p.Phe12639Cys
XM_024453094.1:c.59411T>G (TTN)	XP_024308862.1:p.Phe19804Cys
XM_024453095.1:c.59408T>G (TTN)	XP_024308863.1:p.Phe19803Cys
XM_024453096.1:c.58841T>G (TTN)	XP_024308864.1:p.Phe19614Cys
XM_024453097.1:c.56183T>G (TTN)	XP_024308865.1:p.Phe18728Cys
XM_024453098.1:c.56102T>G (TTN)	XP_024308866.1:p.Phe18701Cys
XM_024453099.1:c.37865T>G (TTN)	XP_024308867.1:p.Phe12622Cys
XM_024453100.1:c.27719T>G (TTN)	XP_024308868.1:p.Phe9240Cys