Canonical Allele Identifier: CA349405616

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1452738777
• gnomAD v2: 2-179394837-T-C
• gnomAD v4: 2-178530110-T-C
• MyVariant Identifiers: chr2:g.179394837T>C (hg19) ; chr2:g.178530110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530110T>C , CM000664.2:g.178530110T>C	GRCh38
NC_000002.11:g.179394837T>C , CM000664.1:g.179394837T>C	GRCh37
NC_000002.10:g.179103083T>C	NCBI36
NG_011618.3:g.305693A>G , LRG_391:g.305693A>G
NG_051363.1:g.12284T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98677A>G (TTN)	ENSP00000343764.6:p.Thr32893Ala
ENST00000342175.11:c.79762A>G (TTN)	ENSP00000340554.6:p.Thr26588Ala
ENST00000359218.10:c.79561A>G (TTN)	ENSP00000352154.5:p.Thr26521Ala
ENST00000342175.10:c.79762A>G (TTN)	ENSP00000340554.6:p.Thr26588Ala
ENST00000342992.10:c.98677A>G (TTN)	ENSP00000343764.6:p.Thr32893Ala
ENST00000359218.9:c.79561A>G (TTN)	ENSP00000352154.5:p.Thr26521Ala
ENST00000460472.6:c.79186A>G (TTN)	ENSP00000434586.1:p.Thr26396Ala
ENST00000589042.5:c.106381A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr35461Ala
ENST00000591111.5:c.101458A>G (TTN)	ENSP00000465570.1:p.Thr33820Ala
ENST00000615779.4:c.101458A>G (TTN)	ENSP00000483597.1:p.Thr33820Ala
NM_001256850.1:c.101458A>G (TTN)	NP_001243779.1:p.Thr33820Ala
NM_001267550.2:c.106381A>G (TTN) MANE Select	NP_001254479.2:p.Thr35461Ala
NM_003319.4:c.79186A>G (TTN)	NP_003310.4:p.Thr26396Ala
NM_133378.4:c.98677A>G (TTN)	NP_596869.4:p.Thr32893Ala
NM_133432.3:c.79561A>G (TTN)	NP_597676.3:p.Thr26521Ala
NM_133437.4:c.79762A>G (TTN)	NP_597681.4:p.Thr26588Ala
NR_038271.1:n.446+6474T>C (TTN-AS1)
NR_038272.1:n.220-5622T>C (TTN-AS1)
XM_011511729.1:c.105478A>G (TTN)	XP_011510031.1:p.Thr35160Ala
XM_011511730.1:c.79372A>G (TTN)	XP_011510032.1:p.Thr26458Ala
XM_011511731.1:c.79231A>G (TTN)	XP_011510033.1:p.Thr26411Ala
XM_017004819.1:c.105274A>G (TTN)	XP_016860308.1:p.Thr35092Ala
XM_017004820.1:c.100672A>G (TTN)	XP_016860309.1:p.Thr33558Ala
XM_017004821.1:c.100669A>G (TTN)	XP_016860310.1:p.Thr33557Ala
XM_017004822.1:c.97711A>G (TTN)	XP_016860311.1:p.Thr32571Ala
XM_017004823.1:c.79327A>G (TTN)	XP_016860312.1:p.Thr26443Ala
XM_024453094.1:c.100822A>G (TTN)	XP_024308862.1:p.Thr33608Ala
XM_024453095.1:c.100819A>G (TTN)	XP_024308863.1:p.Thr33607Ala
XM_024453096.1:c.100252A>G (TTN)	XP_024308864.1:p.Thr33418Ala
XM_024453097.1:c.97594A>G (TTN)	XP_024308865.1:p.Thr32532Ala
XM_024453098.1:c.97513A>G (TTN)	XP_024308866.1:p.Thr32505Ala
XM_024453099.1:c.79276A>G (TTN)	XP_024308867.1:p.Thr26426Ala
XM_024453100.1:c.69130A>G (TTN)	XP_024308868.1:p.Thr23044Ala