Canonical Allele Identifier: CA349464867

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1425140267
• gnomAD v2: 2-179454035-T-C
• gnomAD v3: 2-178589308-T-C
• gnomAD v4: 2-178589308-T-C
• MyVariant Identifiers: chr2:g.179454035T>C (hg19) ; chr2:g.178589308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589308T>C , CM000664.2:g.178589308T>C	GRCh38
NC_000002.11:g.179454035T>C , CM000664.1:g.179454035T>C	GRCh37
NC_000002.10:g.179162281T>C	NCBI36
NG_011618.3:g.246495A>G , LRG_391:g.246495A>G
NG_051363.1:g.71482T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54713A>G (TTN)	ENSP00000343764.6:p.Asp18238Gly
ENST00000342175.11:c.35798A>G (TTN)	ENSP00000340554.6:p.Asp11933Gly
ENST00000359218.10:c.35597A>G (TTN)	ENSP00000352154.5:p.Asp11866Gly
ENST00000342175.10:c.35798A>G (TTN)	ENSP00000340554.6:p.Asp11933Gly
ENST00000342992.10:c.54713A>G (TTN)	ENSP00000343764.6:p.Asp18238Gly
ENST00000359218.9:c.35597A>G (TTN)	ENSP00000352154.5:p.Asp11866Gly
ENST00000460472.6:c.35222A>G (TTN)	ENSP00000434586.1:p.Asp11741Gly
ENST00000589042.5:c.62417A>G (TTN) MANE Select	ENSP00000467141.1:p.Asp20806Gly
ENST00000591111.5:c.57494A>G (TTN)	ENSP00000465570.1:p.Asp19165Gly
ENST00000615779.4:c.57494A>G (TTN)	ENSP00000483597.1:p.Asp19165Gly
NM_001256850.1:c.57494A>G (TTN)	NP_001243779.1:p.Asp19165Gly
NM_001267550.2:c.62417A>G (TTN) MANE Select	NP_001254479.2:p.Asp20806Gly
NM_003319.4:c.35222A>G (TTN)	NP_003310.4:p.Asp11741Gly
NM_133378.4:c.54713A>G (TTN)	NP_596869.4:p.Asp18238Gly
NM_133432.3:c.35597A>G (TTN)	NP_597676.3:p.Asp11866Gly
NM_133437.4:c.35798A>G (TTN)	NP_597681.4:p.Asp11933Gly
NR_038271.1:n.597-8288T>C (TTN-AS1)
NR_038272.1:n.3189-1831T>C (TTN-AS1)
XM_011511729.1:c.61514A>G (TTN)	XP_011510031.1:p.Asp20505Gly
XM_011511730.1:c.35408A>G (TTN)	XP_011510032.1:p.Asp11803Gly
XM_011511731.1:c.35267A>G (TTN)	XP_011510033.1:p.Asp11756Gly
XM_017004819.1:c.61310A>G (TTN)	XP_016860308.1:p.Asp20437Gly
XM_017004820.1:c.56708A>G (TTN)	XP_016860309.1:p.Asp18903Gly
XM_017004821.1:c.56705A>G (TTN)	XP_016860310.1:p.Asp18902Gly
XM_017004822.1:c.53747A>G (TTN)	XP_016860311.1:p.Asp17916Gly
XM_017004823.1:c.35363A>G (TTN)	XP_016860312.1:p.Asp11788Gly
XM_024453094.1:c.56858A>G (TTN)	XP_024308862.1:p.Asp18953Gly
XM_024453095.1:c.56855A>G (TTN)	XP_024308863.1:p.Asp18952Gly
XM_024453096.1:c.56288A>G (TTN)	XP_024308864.1:p.Asp18763Gly
XM_024453097.1:c.53630A>G (TTN)	XP_024308865.1:p.Asp17877Gly
XM_024453098.1:c.53549A>G (TTN)	XP_024308866.1:p.Asp17850Gly
XM_024453099.1:c.35312A>G (TTN)	XP_024308867.1:p.Asp11771Gly
XM_024453100.1:c.25166A>G (TTN)	XP_024308868.1:p.Asp8389Gly