Canonical Allele Identifier: CA349417276

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1437678
• ClinVar RCV Id: RCV001934069
• dbSNP Id: rs1280013764
• gnomAD v2: 2-179398788-A-G
• gnomAD v4: 2-178534061-A-G
• MyVariant Identifiers: chr2:g.179398788A>G (hg19) ; chr2:g.178534061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534061A>G , CM000664.2:g.178534061A>G	GRCh38
NC_000002.11:g.179398788A>G , CM000664.1:g.179398788A>G	GRCh37
NC_000002.10:g.179107034A>G	NCBI36
NG_011618.3:g.301742T>C , LRG_391:g.301742T>C
NG_051363.1:g.16235A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94850T>C (TTN)	ENSP00000343764.6:p.Ile31617Thr
ENST00000342175.11:c.75935T>C (TTN)	ENSP00000340554.6:p.Ile25312Thr
ENST00000359218.10:c.75734T>C (TTN)	ENSP00000352154.5:p.Ile25245Thr
ENST00000342175.10:c.75935T>C (TTN)	ENSP00000340554.6:p.Ile25312Thr
ENST00000342992.10:c.94850T>C (TTN)	ENSP00000343764.6:p.Ile31617Thr
ENST00000359218.9:c.75734T>C (TTN)	ENSP00000352154.5:p.Ile25245Thr
ENST00000460472.6:c.75359T>C (TTN)	ENSP00000434586.1:p.Ile25120Thr
ENST00000589042.5:c.102554T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile34185Thr
ENST00000591111.5:c.97631T>C (TTN)	ENSP00000465570.1:p.Ile32544Thr
ENST00000615779.4:c.97631T>C (TTN)	ENSP00000483597.1:p.Ile32544Thr
NM_001256850.1:c.97631T>C (TTN)	NP_001243779.1:p.Ile32544Thr
NM_001267550.2:c.102554T>C (TTN) MANE Select	NP_001254479.2:p.Ile34185Thr
NM_003319.4:c.75359T>C (TTN)	NP_003310.4:p.Ile25120Thr
NM_133378.4:c.94850T>C (TTN)	NP_596869.4:p.Ile31617Thr
NM_133432.3:c.75734T>C (TTN)	NP_597676.3:p.Ile25245Thr
NM_133437.4:c.75935T>C (TTN)	NP_597681.4:p.Ile25312Thr
NR_038271.1:n.446+10425A>G (TTN-AS1)
NR_038272.1:n.220-1671A>G (TTN-AS1)
XM_011511729.1:c.101651T>C (TTN)	XP_011510031.1:p.Ile33884Thr
XM_011511730.1:c.75545T>C (TTN)	XP_011510032.1:p.Ile25182Thr
XM_011511731.1:c.75404T>C (TTN)	XP_011510033.1:p.Ile25135Thr
XM_017004819.1:c.101447T>C (TTN)	XP_016860308.1:p.Ile33816Thr
XM_017004820.1:c.96845T>C (TTN)	XP_016860309.1:p.Ile32282Thr
XM_017004821.1:c.96842T>C (TTN)	XP_016860310.1:p.Ile32281Thr
XM_017004822.1:c.93884T>C (TTN)	XP_016860311.1:p.Ile31295Thr
XM_017004823.1:c.75500T>C (TTN)	XP_016860312.1:p.Ile25167Thr
XM_024453094.1:c.96995T>C (TTN)	XP_024308862.1:p.Ile32332Thr
XM_024453095.1:c.96992T>C (TTN)	XP_024308863.1:p.Ile32331Thr
XM_024453096.1:c.96425T>C (TTN)	XP_024308864.1:p.Ile32142Thr
XM_024453097.1:c.93767T>C (TTN)	XP_024308865.1:p.Ile31256Thr
XM_024453098.1:c.93686T>C (TTN)	XP_024308866.1:p.Ile31229Thr
XM_024453099.1:c.75449T>C (TTN)	XP_024308867.1:p.Ile25150Thr
XM_024453100.1:c.65303T>C (TTN)	XP_024308868.1:p.Ile21768Thr