Canonical Allele Identifier: CA430271550

Linked Data

MyVariant Identifiers: chr2:g.179474421T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609694T>A , CM000664.2:g.178609694T>A GRCh38
NC_000002.11:g.179474421T>A , CM000664.1:g.179474421T>A GRCh37
NC_000002.10:g.179182666T>A NCBI36
NG_011618.3:g.226109A>T , LRG_391:g.226109A>T
NG_051363.1:g.91868T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.44025A>T (TTN) ENSP00000343764.6:p.Val14675=
ENST00000342175.11:c.25110A>T (TTN) ENSP00000340554.6:p.Val8370=
ENST00000359218.10:c.24909A>T (TTN) ENSP00000352154.5:p.Val8303=
ENST00000342175.10:c.25110A>T (TTN) ENSP00000340554.6:p.Val8370=
ENST00000342992.10:c.44025A>T (TTN) ENSP00000343764.6:p.Val14675=
ENST00000359218.9:c.24909A>T (TTN) ENSP00000352154.5:p.Val8303=
ENST00000460472.6:c.24534A>T (TTN) ENSP00000434586.1:p.Val8178=
ENST00000589042.5:c.51729A>T (TTN) MANE Select ENSP00000467141.1:p.Val17243=
ENST00000591111.5:c.46806A>T (TTN) ENSP00000465570.1:p.Val15602=
ENST00000615779.4:c.46806A>T (TTN) ENSP00000483597.1:p.Val15602=
NM_001256850.1:c.46806A>T (TTN) NP_001243779.1:p.Val15602=
NM_001267550.2:c.51729A>T (TTN) MANE Select NP_001254479.2:p.Val17243=
NM_003319.4:c.24534A>T (TTN) NP_003310.4:p.Val8178=
NM_133378.4:c.44025A>T (TTN) NP_596869.4:p.Val14675=
NM_133432.3:c.24909A>T (TTN) NP_597676.3:p.Val8303=
NM_133437.4:c.25110A>T (TTN) NP_597681.4:p.Val8370=
NR_038271.1:n.782+1428T>A (TTN-AS1)
XM_011511729.1:c.50826A>T (TTN) XP_011510031.1:p.Val16942=
XM_011511730.1:c.24720A>T (TTN) XP_011510032.1:p.Val8240=
XM_011511731.1:c.24579A>T (TTN) XP_011510033.1:p.Val8193=
XM_017004819.1:c.50622A>T (TTN) XP_016860308.1:p.Val16874=
XM_017004820.1:c.46020A>T (TTN) XP_016860309.1:p.Val15340=
XM_017004821.1:c.46017A>T (TTN) XP_016860310.1:p.Val15339=
XM_017004822.1:c.43059A>T (TTN) XP_016860311.1:p.Val14353=
XM_017004823.1:c.24675A>T (TTN) XP_016860312.1:p.Val8225=
XM_024453094.1:c.46170A>T (TTN) XP_024308862.1:p.Val15390=
XM_024453095.1:c.46167A>T (TTN) XP_024308863.1:p.Val15389=
XM_024453096.1:c.45600A>T (TTN) XP_024308864.1:p.Val15200=
XM_024453097.1:c.42942A>T (TTN) XP_024308865.1:p.Val14314=
XM_024453098.1:c.42861A>T (TTN) XP_024308866.1:p.Val14287=
XM_024453099.1:c.24624A>T (TTN) XP_024308867.1:p.Val8208=
XM_024453100.1:c.14478A>T (TTN) XP_024308868.1:p.Val4826=